Canonical Allele Identifier: CA860555191

Gene: POMT1

Linked Data

• dbSNP Id: rs1279877671
• MyVariant Identifiers: chr9:g.134393504_134393514del (hg19) ; chr9:g.131518117_131518127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518119_131518129del , CM000671.2:g.131518119_131518129del	GRCh38
NC_000009.11:g.134393506_134393516del , CM000671.1:g.134393506_134393516del	GRCh37
NC_000009.10:g.133383327_133383337del	NCBI36
NG_008896.1:g.20218_20228del
NG_008896.2:g.20218_20228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1111-326_1111-316del	ENSP00000343034.7:n.1111-326_1111-316del
ENST00000404875.7:n.1813-326_1813-316del
ENST00000423007.6:c.1330-326_1330-316del	ENSP00000404119.2:n.1330-326_1330-316del
ENST00000677295.2:c.*1617-326_*1617-316del	ENSP00000504346.2:n.*1617-326_*1617-316del
ENST00000678264.2:c.*1456-326_*1456-316del	ENSP00000503157.2:n.*1456-326_*1456-316del
ENST00000682070.1:n.1738-326_1738-316del
ENST00000682539.1:c.211-326_211-316del
ENST00000682813.1:n.1538-326_1538-316del
ENST00000683392.1:n.4020-326_4020-316del
ENST00000683712.1:n.1678-326_1678-316del
ENST00000683900.1:n.3173-326_3173-316del
ENST00000684062.1:n.1939-326_1939-316del
ENST00000684579.1:n.3119-326_3119-316del
ENST00000684679.1:n.500-326_500-316del
ENST00000341012.12:c.1111-326_1111-316del	ENSP00000343034.7:n.1111-326_1111-316del
ENST00000372220.5:c.142-326_142-316del	ENSP00000361294.5:n.142-326_142-316del
ENST00000372228.9:c.1339-326_1339-316del	ENSP00000361302.3:n.1339-326_1339-316del
ENST00000402686.8:c.1273-326_1273-316del MANE Select	ENSP00000385797.4:n.1273-326_1273-316del
ENST00000676640.1:c.1273-326_1273-316del	ENSP00000503281.1:n.1273-326_1273-316del
ENST00000676803.1:c.448-326_448-316del	ENSP00000503093.1:n.448-326_448-316del
ENST00000676835.1:c.*488-326_*488-316del	ENSP00000502911.1:n.*488-326_*488-316del
ENST00000677029.1:c.817-326_817-316del	ENSP00000502936.1:n.817-326_817-316del
ENST00000677099.1:c.*983-326_*983-316del	ENSP00000504553.1:n.*983-326_*983-316del
ENST00000677216.1:c.922-326_922-316del	ENSP00000503772.1:n.922-326_922-316del
ENST00000677221.1:n.63_73del
ENST00000677295.1:c.*650-326_*650-316del	ENSP00000504346.1:n.*650-326_*650-316del
ENST00000677444.1:c.1079-326_1079-316del
ENST00000677586.1:n.754-326_754-316del
ENST00000677626.1:c.922-326_922-316del	ENSP00000503552.1:n.922-326_922-316del
ENST00000677677.1:n.1233-326_1233-316del
ENST00000677853.1:c.*281-326_*281-316del	ENSP00000503488.1:n.*281-326_*281-316del
ENST00000677944.1:c.535-326_535-316del
ENST00000677983.1:n.127_137del
ENST00000678202.1:n.120_130del
ENST00000678264.1:c.*650-326_*650-316del	ENSP00000503157.1:n.*650-326_*650-316del
ENST00000678303.1:c.1183-326_1183-316del	ENSP00000503696.1:n.1183-326_1183-316del
ENST00000678366.1:c.*1522-326_*1522-316del	ENSP00000504353.1:n.*1522-326_*1522-316del
ENST00000678546.1:c.*1218-326_*1218-316del	ENSP00000503062.1:n.*1218-326_*1218-316del
ENST00000678548.1:c.*1345-326_*1345-316del	ENSP00000503934.1:n.*1345-326_*1345-316del
ENST00000678626.1:n.970-326_970-316del
ENST00000678733.1:c.354-326_354-316del
ENST00000678739.1:c.*1599-326_*1599-316del	ENSP00000503806.1:n.*1599-326_*1599-316del
ENST00000678795.1:n.360-326_360-316del
ENST00000678833.1:c.*720-326_*720-316del	ENSP00000503893.1:n.*720-326_*720-316del
ENST00000678942.1:c.453-326_453-316del	ENSP00000504690.1:n.453-326_453-316del
ENST00000679023.1:c.1111-326_1111-316del	ENSP00000503718.1:n.1111-326_1111-316del
ENST00000679076.1:c.892-326_892-316del
ENST00000679111.1:c.1273-326_1273-316del	ENSP00000504257.1:n.1273-326_1273-316del
ENST00000679189.1:c.922-326_922-316del	ENSP00000503356.1:n.922-326_922-316del
ENST00000341012.11:c.1111-326_1111-316del	ENSP00000343034.7:n.1111-326_1111-316del
ENST00000372228.7:c.1339-326_1339-316del	ENSP00000361302.3:n.1339-326_1339-316del
ENST00000402686.7:c.1273-326_1273-316del	ENSP00000385797.3:n.1273-326_1273-316del
ENST00000404875.6:c.922-326_922-316del	ENSP00000384531.2:n.922-326_922-316del
ENST00000423007.5:c.1273-326_1273-316del	ENSP00000404119.1:n.1273-326_1273-316del
ENST00000485278.5:n.1828-326_1828-316del
NM_001077365.1:c.1273-326_1273-316del	NP_001070833.1:n.1273-326_1273-316del
NM_001077366.1:c.1111-326_1111-316del	NP_001070834.1:n.1111-326_1111-316del
NM_001136113.1:c.1273-326_1273-316del	NP_001129585.1:n.1273-326_1273-316del
NM_001136114.1:c.922-326_922-316del	NP_001129586.1:n.922-326_922-316del
NM_007171.3:c.1339-326_1339-316del	NP_009102.3:n.1339-326_1339-316del
XM_005272156.1:c.1339-326_1339-316del	XP_005272213.1:n.1339-326_1339-316del
XM_005272158.1:c.1177-326_1177-316del	XP_005272215.1:n.1177-326_1177-316del
XM_005272159.1:c.988-326_988-316del	XP_005272216.1:n.988-326_988-316del
XM_005272162.1:c.142-326_142-316del	XP_005272219.1:n.142-326_142-316del
XM_006716932.1:c.988-326_988-316del	XP_006716995.1:n.988-326_988-316del
XM_011518140.1:c.1192-326_1192-316del	XP_011516442.1:n.1192-326_1192-316del
XM_011518141.1:c.1126-326_1126-316del	XP_011516443.1:n.1126-326_1126-316del
XM_011518142.1:c.1030-326_1030-316del	XP_011516444.1:n.1030-326_1030-316del
XM_011518143.1:c.1024-326_1024-316del	XP_011516445.1:n.1024-326_1024-316del
XM_011518144.1:c.1339-326_1339-316del	XP_011516446.1:n.1339-326_1339-316del
XM_011518145.1:c.883-326_883-316del	XP_011516447.1:n.883-326_883-316del
XM_011518146.1:c.1024-326_1024-316del	XP_011516448.1:n.1024-326_1024-316del
XM_011518147.1:c.-25_-15del	XP_011516449.1:n.-25_-15del
XR_929703.1:n.1515-326_1515-316del
NM_001353193.1:c.1339-326_1339-316del	NP_001340122.1:n.1339-326_1339-316del
NM_001353194.1:c.1111-326_1111-316del	NP_001340123.1:n.1111-326_1111-316del
NM_001353195.1:c.922-326_922-316del	NP_001340124.1:n.922-326_922-316del
NM_001353196.1:c.1183-326_1183-316del	NP_001340125.1:n.1183-326_1183-316del
NM_001353197.1:c.1177-326_1177-316del	NP_001340126.1:n.1177-326_1177-316del
NM_001353198.1:c.1177-326_1177-316del	NP_001340127.1:n.1177-326_1177-316del
NM_001353199.1:c.988-326_988-316del	NP_001340128.1:n.988-326_988-316del
NM_001353200.1:c.817-326_817-316del	NP_001340129.1:n.817-326_817-316del
NR_148391.1:n.1323-326_1323-316del
NR_148392.1:n.1541-326_1541-316del
NR_148393.1:n.1323-326_1323-316del
NR_148394.1:n.1216-326_1216-316del
NR_148395.1:n.1475-326_1475-316del
NR_148396.1:n.1109-326_1109-316del
NR_148397.1:n.1373-326_1373-316del
NR_148398.1:n.1328-326_1328-316del
NR_148399.1:n.1715-326_1715-316del
NR_148400.1:n.1314-326_1314-316del
XM_005272162.3:c.142-326_142-316del	XP_005272219.1:n.142-326_142-316del
XM_006716932.2:c.988-326_988-316del	XP_006716995.1:n.988-326_988-316del
XM_011518140.2:c.1192-326_1192-316del	XP_011516442.1:n.1192-326_1192-316del
XM_011518141.2:c.1126-326_1126-316del	XP_011516443.1:n.1126-326_1126-316del
XM_011518142.2:c.1030-326_1030-316del	XP_011516444.1:n.1030-326_1030-316del
XM_011518143.2:c.1024-326_1024-316del	XP_011516445.1:n.1024-326_1024-316del
XM_011518145.2:c.883-326_883-316del	XP_011516447.1:n.883-326_883-316del
XM_017014205.2:c.142-326_142-316del	XP_016869694.1:n.142-326_142-316del
XM_024447380.1:c.142-326_142-316del	XP_024303148.1:n.142-326_142-316del
XM_024447381.1:c.448-326_448-316del	XP_024303149.1:n.448-326_448-316del
XM_024447382.1:c.142-326_142-316del	XP_024303150.1:n.142-326_142-316del
XR_001746160.2:n.1443-326_1443-316del
XR_001746162.2:n.1509-326_1509-316del
XR_001746164.1:n.1226-326_1226-316del
XR_001746166.2:n.1660-326_1660-316del
XR_930402.2:n.312_322del
NM_001077365.2:c.1273-326_1273-316del MANE Select	NP_001070833.1:n.1273-326_1273-316del
NM_001077366.2:c.1111-326_1111-316del	NP_001070834.1:n.1111-326_1111-316del
NM_001136113.2:c.1273-326_1273-316del	NP_001129585.1:n.1273-326_1273-316del
NM_001136114.2:c.922-326_922-316del	NP_001129586.1:n.922-326_922-316del
NM_001353193.2:c.1339-326_1339-316del	NP_001340122.2:n.1339-326_1339-316del
NM_001353194.2:c.1111-326_1111-316del	NP_001340123.1:n.1111-326_1111-316del
NM_001353195.2:c.922-326_922-316del	NP_001340124.1:n.922-326_922-316del
NM_001353196.2:c.1183-326_1183-316del	NP_001340125.1:n.1183-326_1183-316del
NM_001353197.2:c.1177-326_1177-316del	NP_001340126.2:n.1177-326_1177-316del
NM_001353198.2:c.1177-326_1177-316del	NP_001340127.2:n.1177-326_1177-316del
NM_001353199.2:c.988-326_988-316del	NP_001340128.2:n.988-326_988-316del
NM_001353200.2:c.817-326_817-316del	NP_001340129.1:n.817-326_817-316del
NM_001374689.1:c.1261-326_1261-316del	NP_001361618.1:n.1261-326_1261-316del
NM_001374690.1:c.1273-326_1273-316del	NP_001361619.1:n.1273-326_1273-316del
NM_001374691.1:c.922-326_922-316del	NP_001361620.1:n.922-326_922-316del
NM_001374692.1:c.922-326_922-316del	NP_001361621.1:n.922-326_922-316del
NM_001374693.1:c.922-326_922-316del	NP_001361622.1:n.922-326_922-316del
NM_001374695.1:c.883-326_883-316del	NP_001361624.1:n.883-326_883-316del
NM_007171.4:c.1339-326_1339-316del	NP_009102.4:n.1339-326_1339-316del
NR_148391.2:n.1307-326_1307-316del
NR_148392.2:n.1525-326_1525-316del
NR_148393.2:n.1307-326_1307-316del
NR_148394.2:n.1200-326_1200-316del
NR_148395.2:n.1459-326_1459-316del
NR_148396.2:n.1093-326_1093-316del
NR_148397.2:n.1357-326_1357-316del
NR_148398.2:n.1312-326_1312-316del
NR_148399.2:n.1699-326_1699-316del
NR_148400.2:n.1298-326_1298-316del