Canonical Allele Identifier: CA590753270
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1948289031
gnomAD v2: 9-134391181-A-ACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAG
gnomAD v3: 9-131515794-A-ACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAG
gnomAD v4: 9-131515794-A-ACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAG
MyVariant Identifiers: chr9:g.134391198_134391199insCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACACGGAG (hg19) chr9:g.131515811_131515812insCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACACGGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515807_131515859dup , CM000671.2:g.131515807_131515859dup GRCh38
NC_000009.11:g.134391194_134391246dup , CM000671.1:g.134391194_134391246dup GRCh37
NC_000009.10:g.133381015_133381067dup NCBI36
NG_008896.1:g.17906_17958dup
NG_008896.2:g.17906_17958dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+285_1110+337dup ENSP00000343034.7:n.1110+285_1110+337dup
ENST00000404875.7:n.1812+285_1812+337dup
ENST00000423007.6:c.1329+285_1329+337dup ENSP00000404119.2:n.1329+285_1329+337dup
ENST00000677295.2:c.*1616+285_*1616+337dup ENSP00000504346.2:n.*1616+285_*1616+337dup
ENST00000678264.2:c.*1455+285_*1455+337dup ENSP00000503157.2:n.*1455+285_*1455+337dup
ENST00000682070.1:n.1737+285_1737+337dup
ENST00000682539.1:c.97+285_97+337dup
ENST00000682813.1:n.1537+285_1537+337dup
ENST00000683392.1:n.4019+285_4019+337dup
ENST00000683712.1:n.1677+285_1677+337dup
ENST00000683900.1:n.3172+285_3172+337dup
ENST00000684062.1:n.1938+285_1938+337dup
ENST00000684579.1:n.3118+285_3118+337dup
ENST00000341012.12:c.1110+285_1110+337dup ENSP00000343034.7:n.1110+285_1110+337dup
ENST00000372220.5:c.141+285_141+337dup ENSP00000361294.5:n.141+285_141+337dup
ENST00000372228.9:c.1338+285_1338+337dup ENSP00000361302.3:n.1338+285_1338+337dup
ENST00000402686.8:c.1272+285_1272+337dup MANE Select ENSP00000385797.4:n.1272+285_1272+337dup
ENST00000676640.1:c.1272+285_1272+337dup ENSP00000503281.1:n.1272+285_1272+337dup
ENST00000676803.1:c.447+285_447+337dup ENSP00000503093.1:n.447+285_447+337dup
ENST00000676835.1:c.*487+285_*487+337dup ENSP00000502911.1:n.*487+285_*487+337dup
ENST00000677029.1:c.816+285_816+337dup ENSP00000502936.1:n.816+285_816+337dup
ENST00000677099.1:c.*982+285_*982+337dup ENSP00000504553.1:n.*982+285_*982+337dup
ENST00000677216.1:c.921+285_921+337dup ENSP00000503772.1:n.921+285_921+337dup
ENST00000677295.1:c.*649+285_*649+337dup ENSP00000504346.1:n.*649+285_*649+337dup
ENST00000677444.1:c.1078+285_1078+337dup
ENST00000677586.1:n.753+285_753+337dup
ENST00000677626.1:c.921+285_921+337dup ENSP00000503552.1:n.921+285_921+337dup
ENST00000677677.1:n.1232+285_1232+337dup
ENST00000677853.1:c.*280+285_*280+337dup ENSP00000503488.1:n.*280+285_*280+337dup
ENST00000677944.1:c.534+285_534+337dup
ENST00000678264.1:c.*649+285_*649+337dup ENSP00000503157.1:n.*649+285_*649+337dup
ENST00000678303.1:c.1182+285_1182+337dup ENSP00000503696.1:n.1182+285_1182+337dup
ENST00000678366.1:c.*1521+285_*1521+337dup ENSP00000504353.1:n.*1521+285_*1521+337dup
ENST00000678546.1:c.*1217+285_*1217+337dup ENSP00000503062.1:n.*1217+285_*1217+337dup
ENST00000678548.1:c.*1344+285_*1344+337dup ENSP00000503934.1:n.*1344+285_*1344+337dup
ENST00000678626.1:n.969+285_969+337dup
ENST00000678733.1:c.353+285_353+337dup
ENST00000678739.1:c.*1598+285_*1598+337dup ENSP00000503806.1:n.*1598+285_*1598+337dup
ENST00000678795.1:n.359+285_359+337dup
ENST00000678833.1:c.*719+285_*719+337dup ENSP00000503893.1:n.*719+285_*719+337dup
ENST00000678942.1:c.452+285_452+337dup ENSP00000504690.1:n.452+285_452+337dup
ENST00000679023.1:c.1110+285_1110+337dup ENSP00000503718.1:n.1110+285_1110+337dup
ENST00000679076.1:c.891+285_891+337dup
ENST00000679111.1:c.1272+285_1272+337dup ENSP00000504257.1:n.1272+285_1272+337dup
ENST00000679189.1:c.921+285_921+337dup ENSP00000503356.1:n.921+285_921+337dup
ENST00000341012.11:c.1110+285_1110+337dup ENSP00000343034.7:n.1110+285_1110+337dup
ENST00000372228.7:c.1338+285_1338+337dup ENSP00000361302.3:n.1338+285_1338+337dup
ENST00000402686.7:c.1272+285_1272+337dup ENSP00000385797.3:n.1272+285_1272+337dup
ENST00000404875.6:c.921+285_921+337dup ENSP00000384531.2:n.921+285_921+337dup
ENST00000423007.5:c.1272+285_1272+337dup ENSP00000404119.1:n.1272+285_1272+337dup
ENST00000485278.5:n.1827+285_1827+337dup
NM_001077365.1:c.1272+285_1272+337dup NP_001070833.1:n.1272+285_1272+337dup
NM_001077366.1:c.1110+285_1110+337dup NP_001070834.1:n.1110+285_1110+337dup
NM_001136113.1:c.1272+285_1272+337dup NP_001129585.1:n.1272+285_1272+337dup
NM_001136114.1:c.921+285_921+337dup NP_001129586.1:n.921+285_921+337dup
NM_007171.3:c.1338+285_1338+337dup NP_009102.3:n.1338+285_1338+337dup
XM_005272156.1:c.1338+285_1338+337dup XP_005272213.1:n.1338+285_1338+337dup
XM_005272158.1:c.1176+285_1176+337dup XP_005272215.1:n.1176+285_1176+337dup
XM_005272159.1:c.987+285_987+337dup XP_005272216.1:n.987+285_987+337dup
XM_005272162.1:c.141+285_141+337dup XP_005272219.1:n.141+285_141+337dup
XM_006716932.1:c.987+285_987+337dup XP_006716995.1:n.987+285_987+337dup
XM_011518140.1:c.1191+285_1191+337dup XP_011516442.1:n.1191+285_1191+337dup
XM_011518141.1:c.1125+285_1125+337dup XP_011516443.1:n.1125+285_1125+337dup
XM_011518142.1:c.1029+285_1029+337dup XP_011516444.1:n.1029+285_1029+337dup
XM_011518143.1:c.1023+285_1023+337dup XP_011516445.1:n.1023+285_1023+337dup
XM_011518144.1:c.1338+285_1338+337dup XP_011516446.1:n.1338+285_1338+337dup
XM_011518145.1:c.882+285_882+337dup XP_011516447.1:n.882+285_882+337dup
XM_011518146.1:c.1023+285_1023+337dup XP_011516448.1:n.1023+285_1023+337dup
XR_929703.1:n.1514+285_1514+337dup
NM_001353193.1:c.1338+285_1338+337dup NP_001340122.1:n.1338+285_1338+337dup
NM_001353194.1:c.1110+285_1110+337dup NP_001340123.1:n.1110+285_1110+337dup
NM_001353195.1:c.921+285_921+337dup NP_001340124.1:n.921+285_921+337dup
NM_001353196.1:c.1182+285_1182+337dup NP_001340125.1:n.1182+285_1182+337dup
NM_001353197.1:c.1176+285_1176+337dup NP_001340126.1:n.1176+285_1176+337dup
NM_001353198.1:c.1176+285_1176+337dup NP_001340127.1:n.1176+285_1176+337dup
NM_001353199.1:c.987+285_987+337dup NP_001340128.1:n.987+285_987+337dup
NM_001353200.1:c.816+285_816+337dup NP_001340129.1:n.816+285_816+337dup
NR_148391.1:n.1322+285_1322+337dup
NR_148392.1:n.1540+285_1540+337dup
NR_148393.1:n.1322+285_1322+337dup
NR_148394.1:n.1215+285_1215+337dup
NR_148395.1:n.1474+285_1474+337dup
NR_148396.1:n.1108+285_1108+337dup
NR_148397.1:n.1372+285_1372+337dup
NR_148398.1:n.1327+285_1327+337dup
NR_148399.1:n.1714+285_1714+337dup
NR_148400.1:n.1313+285_1313+337dup
XM_005272162.3:c.141+285_141+337dup XP_005272219.1:n.141+285_141+337dup
XM_006716932.2:c.987+285_987+337dup XP_006716995.1:n.987+285_987+337dup
XM_011518140.2:c.1191+285_1191+337dup XP_011516442.1:n.1191+285_1191+337dup
XM_011518141.2:c.1125+285_1125+337dup XP_011516443.1:n.1125+285_1125+337dup
XM_011518142.2:c.1029+285_1029+337dup XP_011516444.1:n.1029+285_1029+337dup
XM_011518143.2:c.1023+285_1023+337dup XP_011516445.1:n.1023+285_1023+337dup
XM_011518145.2:c.882+285_882+337dup XP_011516447.1:n.882+285_882+337dup
XM_017014205.2:c.141+285_141+337dup XP_016869694.1:n.141+285_141+337dup
XM_024447380.1:c.141+285_141+337dup XP_024303148.1:n.141+285_141+337dup
XM_024447381.1:c.447+285_447+337dup XP_024303149.1:n.447+285_447+337dup
XM_024447382.1:c.141+285_141+337dup XP_024303150.1:n.141+285_141+337dup
XR_001746160.2:n.1442+285_1442+337dup
XR_001746162.2:n.1508+285_1508+337dup
XR_001746164.1:n.1225+285_1225+337dup
XR_001746166.2:n.1659+285_1659+337dup
NM_001077365.2:c.1272+285_1272+337dup MANE Select NP_001070833.1:n.1272+285_1272+337dup
NM_001077366.2:c.1110+285_1110+337dup NP_001070834.1:n.1110+285_1110+337dup
NM_001136113.2:c.1272+285_1272+337dup NP_001129585.1:n.1272+285_1272+337dup
NM_001136114.2:c.921+285_921+337dup NP_001129586.1:n.921+285_921+337dup
NM_001353193.2:c.1338+285_1338+337dup NP_001340122.2:n.1338+285_1338+337dup
NM_001353194.2:c.1110+285_1110+337dup NP_001340123.1:n.1110+285_1110+337dup
NM_001353195.2:c.921+285_921+337dup NP_001340124.1:n.921+285_921+337dup
NM_001353196.2:c.1182+285_1182+337dup NP_001340125.1:n.1182+285_1182+337dup
NM_001353197.2:c.1176+285_1176+337dup NP_001340126.2:n.1176+285_1176+337dup
NM_001353198.2:c.1176+285_1176+337dup NP_001340127.2:n.1176+285_1176+337dup
NM_001353199.2:c.987+285_987+337dup NP_001340128.2:n.987+285_987+337dup
NM_001353200.2:c.816+285_816+337dup NP_001340129.1:n.816+285_816+337dup
NM_001374689.1:c.1260+285_1260+337dup NP_001361618.1:n.1260+285_1260+337dup
NM_001374690.1:c.1272+285_1272+337dup NP_001361619.1:n.1272+285_1272+337dup
NM_001374691.1:c.921+285_921+337dup NP_001361620.1:n.921+285_921+337dup
NM_001374692.1:c.921+285_921+337dup NP_001361621.1:n.921+285_921+337dup
NM_001374693.1:c.921+285_921+337dup NP_001361622.1:n.921+285_921+337dup
NM_001374695.1:c.882+285_882+337dup NP_001361624.1:n.882+285_882+337dup
NM_007171.4:c.1338+285_1338+337dup NP_009102.4:n.1338+285_1338+337dup
NR_148391.2:n.1306+285_1306+337dup
NR_148392.2:n.1524+285_1524+337dup
NR_148393.2:n.1306+285_1306+337dup
NR_148394.2:n.1199+285_1199+337dup
NR_148395.2:n.1458+285_1458+337dup
NR_148396.2:n.1092+285_1092+337dup
NR_148397.2:n.1356+285_1356+337dup
NR_148398.2:n.1311+285_1311+337dup
NR_148399.2:n.1698+285_1698+337dup
NR_148400.2:n.1297+285_1297+337dup
Search 100 bp 5'
Search 100 bp 3'