Canonical Allele Identifier: CA5293832
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1564388597

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521451_131521452insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT , CM000671.2:g.131521451_131521452insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT GRCh38
NC_000009.11:g.134396838_134396839insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT , CM000671.1:g.134396838_134396839insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT GRCh37
NC_000009.10:g.133386659_133386660insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NCBI36
NG_008896.1:g.23550_23551insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NG_008896.2:g.23550_23551insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1642_1643insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000343034.7:p.Asn548delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000404875.7:n.2344_2345insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000423007.6:c.1861_1862insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000404119.2:p.Asn621delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000677295.2:c.*2148_*2149insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000504346.2:n.*2148_*2149insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000678264.2:c.*1987_*1988insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503157.2:n.*1987_*1988insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000682070.1:n.2269_2270insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000682813.1:n.2208_2209insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000683392.1:n.4551_4552insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000683712.1:n.2209_2210insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000683900.1:n.3704_3705insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000684062.1:n.2470_2471insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000684579.1:n.3650_3651insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000684679.1:n.1031_1032insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000341012.12:c.1642_1643insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000343034.7:p.Asn548delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000372220.5:c.673_674insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000361294.5:p.Asn225delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000372228.9:c.1870_1871insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000361302.3:p.Asn624delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000402686.8:c.1804_1805insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT MANE Select ENSP00000385797.4:p.Asn602delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000676640.1:c.1804_1805insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503281.1:p.Asn602delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000676803.1:c.865_866insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503093.1:p.Asn289delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000676835.1:c.*1019_*1020insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000502911.1:n.*1019_*1020insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000677029.1:c.1348_1349insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000502936.1:p.Asn450delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000677099.1:c.*1514_*1515insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000504553.1:n.*1514_*1515insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000677216.1:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503772.1:p.Asn485delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000677221.1:n.829_830insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000677295.1:c.*1181_*1182insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000504346.1:n.*1181_*1182insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000677444.1:c.1749_1750insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000677586.1:n.1171_1172insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000677626.1:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503552.1:p.Asn485delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000677853.1:c.*812_*813insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503488.1:n.*812_*813insCTCCCAATTTTCAGTTTCCAATTACAAAA...
ENST00000678202.1:n.963_964insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000678264.1:c.*1181_*1182insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503157.1:n.*1181_*1182insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000678303.1:c.1714_1715insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503696.1:p.Asn572delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000678366.1:c.*2053_*2054insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000504353.1:n.*2053_*2054insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000678546.1:c.*1749_*1750insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503062.1:n.*1749_*1750insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000678548.1:c.*1876_*1877insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503934.1:n.*1876_*1877insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000678626.1:n.1640_1641insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000678739.1:c.*2125_*2126insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503806.1:n.*2125_*2126insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000678833.1:c.*1556_*1557insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503893.1:n.*1556_*1557insCTCCCAATTTTCAGTTTCCAATTACAA...
ENST00000679023.1:c.1642_1643insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503718.1:p.Asn548delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000679076.1:c.1423_1424insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000679111.1:c.*560_*561insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000504257.1:n.*560_*561insCTCCCAATTTTCAGTTTCCAATTACAAAA...
ENST00000679189.1:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000503356.1:p.Asn485delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000341012.11:c.1642_1643insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000343034.7:p.Asn548delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000372220.4:c.667_668insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000361294.4:p.Asn223delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000372228.7:c.1870_1871insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000361302.3:p.Asn624delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000402686.7:c.1804_1805insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000385797.3:p.Asn602delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000404875.6:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000384531.2:p.Asn485delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000423007.5:c.1804_1805insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT ENSP00000404119.1:p.Asn602delinsThrProAsnPheGlnPheProIleThrLy...
ENST00000485278.5:n.2354_2355insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
ENST00000494883.1:n.347_348insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NM_001077365.1:c.1804_1805insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001070833.1:p.Asn602delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001077366.1:c.1642_1643insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001070834.1:p.Asn548delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001136113.1:c.1804_1805insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001129585.1:p.Asn602delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001136114.1:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001129586.1:p.Asn485delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_007171.3:c.1870_1871insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_009102.3:p.Asn624delinsThrProAsnPheGlnPheProIleThrLysLeuAr...
XM_005272156.1:c.1870_1871insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_005272213.1:p.Asn624delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_005272158.1:c.1708_1709insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_005272215.1:p.Asn570delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_005272159.1:c.1519_1520insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_005272216.1:p.Asn507delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_005272162.1:c.673_674insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_005272219.1:p.Asn225delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_006716932.1:c.1519_1520insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_006716995.1:p.Asn507delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518140.1:c.1723_1724insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516442.1:p.Asn575delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518141.1:c.1657_1658insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516443.1:p.Asn553delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518142.1:c.1561_1562insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516444.1:p.Asn521delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518143.1:c.1555_1556insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516445.1:p.Asn519delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518145.1:c.1414_1415insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516447.1:p.Asn472delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518147.1:c.742_743insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516449.1:p.Asn248delinsThrProAsnPheGlnPheProIleThrLysLe...
XR_929703.1:n.2046_2047insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NM_001353193.1:c.1870_1871insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340122.1:p.Asn624delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353194.1:c.1642_1643insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340123.1:p.Asn548delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353195.1:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340124.1:p.Asn485delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353196.1:c.1714_1715insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340125.1:p.Asn572delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353197.1:c.1708_1709insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340126.1:p.Asn570delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353198.1:c.1708_1709insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340127.1:p.Asn570delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353199.1:c.1519_1520insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340128.1:p.Asn507delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353200.1:c.1348_1349insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340129.1:p.Asn450delinsThrProAsnPheGlnPheProIleThrLysLe...
NR_148391.1:n.1854_1855insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148392.1:n.2072_2073insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148393.1:n.1993_1994insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148394.1:n.1747_1748insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148395.1:n.2145_2146insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148396.1:n.1779_1780insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148397.1:n.1904_1905insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148398.1:n.1859_1860insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148399.1:n.2385_2386insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148400.1:n.1984_1985insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
XM_005272162.3:c.673_674insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_005272219.1:p.Asn225delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_006716932.2:c.1519_1520insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_006716995.1:p.Asn507delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518140.2:c.1723_1724insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516442.1:p.Asn575delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518141.2:c.1657_1658insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516443.1:p.Asn553delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518142.2:c.1561_1562insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516444.1:p.Asn521delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518143.2:c.1555_1556insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516445.1:p.Asn519delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_011518145.2:c.1414_1415insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_011516447.1:p.Asn472delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_017014205.2:c.673_674insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_016869694.1:p.Asn225delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_024447380.1:c.673_674insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_024303148.1:p.Asn225delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_024447381.1:c.979_980insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_024303149.1:p.Asn327delinsThrProAsnPheGlnPheProIleThrLysLe...
XM_024447382.1:c.673_674insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT XP_024303150.1:p.Asn225delinsThrProAsnPheGlnPheProIleThrLysLe...
XR_001746160.2:n.1974_1975insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
XR_001746162.2:n.2179_2180insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
XR_001746164.1:n.1896_1897insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
XR_001746166.2:n.2191_2192insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NM_001077365.2:c.1804_1805insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT MANE Select NP_001070833.1:p.Asn602delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001077366.2:c.1642_1643insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001070834.1:p.Asn548delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001136113.2:c.1804_1805insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001129585.1:p.Asn602delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001136114.2:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001129586.1:p.Asn485delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353193.2:c.1870_1871insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340122.2:p.Asn624delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353194.2:c.1642_1643insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340123.1:p.Asn548delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353195.2:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340124.1:p.Asn485delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353196.2:c.1714_1715insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340125.1:p.Asn572delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353197.2:c.1708_1709insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340126.2:p.Asn570delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353198.2:c.1708_1709insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340127.2:p.Asn570delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353199.2:c.1519_1520insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340128.2:p.Asn507delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001353200.2:c.1348_1349insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001340129.1:p.Asn450delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001374689.1:c.1792_1793insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001361618.1:p.Asn598delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001374690.1:c.1585_1586insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001361619.1:p.Asn529delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001374691.1:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001361620.1:p.Asn485delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001374692.1:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001361621.1:p.Asn485delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001374693.1:c.1453_1454insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001361622.1:p.Asn485delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_001374695.1:c.1414_1415insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_001361624.1:p.Asn472delinsThrProAsnPheGlnPheProIleThrLysLe...
NM_007171.4:c.1870_1871insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT NP_009102.4:p.Asn624delinsThrProAsnPheGlnPheProIleThrLysLeuAr...
NR_148391.2:n.1838_1839insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148392.2:n.2056_2057insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148393.2:n.1977_1978insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148394.2:n.1731_1732insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148395.2:n.2129_2130insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148396.2:n.1763_1764insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148397.2:n.1888_1889insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148398.2:n.1843_1844insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148399.2:n.2369_2370insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT
NR_148400.2:n.1968_1969insCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGT