Canonical Allele Identifier: CA1881751116

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518054_131518056delinsGAC , CM000671.2:g.131518054_131518056delinsGAC	GRCh38
NC_000009.11:g.134393441_134393443delinsGAC , CM000671.1:g.134393441_134393443delinsGAC	GRCh37
NC_000009.10:g.133383262_133383264delinsGAC	NCBI36
NG_008896.1:g.20153_20155delinsGAC
NG_008896.2:g.20153_20155delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1111-391_1111-389delinsGAC	ENSP00000343034.7:n.1111-391_1111-389delinsGAC
ENST00000404875.7:n.1813-391_1813-389delinsGAC
ENST00000423007.6:c.1330-391_1330-389delinsGAC	ENSP00000404119.2:n.1330-391_1330-389delinsGAC
ENST00000677295.2:c.*1617-391_*1617-389delinsGAC	ENSP00000504346.2:n.*1617-391_*1617-389delinsGAC
ENST00000678264.2:c.*1456-391_*1456-389delinsGAC	ENSP00000503157.2:n.*1456-391_*1456-389delinsGAC
ENST00000682070.1:n.1738-391_1738-389delinsGAC
ENST00000682539.1:c.211-391_211-389delinsGAC
ENST00000682813.1:n.1538-391_1538-389delinsGAC
ENST00000683392.1:n.4020-391_4020-389delinsGAC
ENST00000683712.1:n.1678-391_1678-389delinsGAC
ENST00000683900.1:n.3173-391_3173-389delinsGAC
ENST00000684062.1:n.1939-391_1939-389delinsGAC
ENST00000684579.1:n.3119-391_3119-389delinsGAC
ENST00000684679.1:n.500-391_500-389delinsGAC
ENST00000341012.12:c.1111-391_1111-389delinsGAC	ENSP00000343034.7:n.1111-391_1111-389delinsGAC
ENST00000372220.5:c.142-391_142-389delinsGAC	ENSP00000361294.5:n.142-391_142-389delinsGAC
ENST00000372228.9:c.1339-391_1339-389delinsGAC	ENSP00000361302.3:n.1339-391_1339-389delinsGAC
ENST00000402686.8:c.1273-391_1273-389delinsGAC MANE Select	ENSP00000385797.4:n.1273-391_1273-389delinsGAC
ENST00000676640.1:c.1273-391_1273-389delinsGAC	ENSP00000503281.1:n.1273-391_1273-389delinsGAC
ENST00000676803.1:c.448-391_448-389delinsGAC	ENSP00000503093.1:n.448-391_448-389delinsGAC
ENST00000676835.1:c.*488-391_*488-389delinsGAC	ENSP00000502911.1:n.*488-391_*488-389delinsGAC
ENST00000677029.1:c.817-391_817-389delinsGAC	ENSP00000502936.1:n.817-391_817-389delinsGAC
ENST00000677099.1:c.*983-391_*983-389delinsGAC	ENSP00000504553.1:n.*983-391_*983-389delinsGAC
ENST00000677216.1:c.922-391_922-389delinsGAC	ENSP00000503772.1:n.922-391_922-389delinsGAC
ENST00000677295.1:c.*650-391_*650-389delinsGAC	ENSP00000504346.1:n.*650-391_*650-389delinsGAC
ENST00000677444.1:c.1079-391_1079-389delinsGAC
ENST00000677586.1:n.754-391_754-389delinsGAC
ENST00000677626.1:c.922-391_922-389delinsGAC	ENSP00000503552.1:n.922-391_922-389delinsGAC
ENST00000677677.1:n.1233-391_1233-389delinsGAC
ENST00000677853.1:c.*281-391_*281-389delinsGAC	ENSP00000503488.1:n.*281-391_*281-389delinsGAC
ENST00000677944.1:c.535-391_535-389delinsGAC
ENST00000677983.1:n.62_64delinsGAC
ENST00000678202.1:n.55_57delinsGAC
ENST00000678264.1:c.*650-391_*650-389delinsGAC	ENSP00000503157.1:n.*650-391_*650-389delinsGAC
ENST00000678303.1:c.1183-391_1183-389delinsGAC	ENSP00000503696.1:n.1183-391_1183-389delinsGAC
ENST00000678366.1:c.*1522-391_*1522-389delinsGAC	ENSP00000504353.1:n.*1522-391_*1522-389delinsGAC
ENST00000678546.1:c.*1218-391_*1218-389delinsGAC	ENSP00000503062.1:n.*1218-391_*1218-389delinsGAC
ENST00000678548.1:c.*1345-391_*1345-389delinsGAC	ENSP00000503934.1:n.*1345-391_*1345-389delinsGAC
ENST00000678626.1:n.970-391_970-389delinsGAC
ENST00000678733.1:c.354-391_354-389delinsGAC
ENST00000678739.1:c.*1599-391_*1599-389delinsGAC	ENSP00000503806.1:n.*1599-391_*1599-389delinsGAC
ENST00000678795.1:n.360-391_360-389delinsGAC
ENST00000678833.1:c.*720-391_*720-389delinsGAC	ENSP00000503893.1:n.*720-391_*720-389delinsGAC
ENST00000678942.1:c.453-391_453-389delinsGAC	ENSP00000504690.1:n.453-391_453-389delinsGAC
ENST00000679023.1:c.1111-391_1111-389delinsGAC	ENSP00000503718.1:n.1111-391_1111-389delinsGAC
ENST00000679076.1:c.892-391_892-389delinsGAC
ENST00000679111.1:c.1273-391_1273-389delinsGAC	ENSP00000504257.1:n.1273-391_1273-389delinsGAC
ENST00000679189.1:c.922-391_922-389delinsGAC	ENSP00000503356.1:n.922-391_922-389delinsGAC
ENST00000341012.11:c.1111-391_1111-389delinsGAC	ENSP00000343034.7:n.1111-391_1111-389delinsGAC
ENST00000372228.7:c.1339-391_1339-389delinsGAC	ENSP00000361302.3:n.1339-391_1339-389delinsGAC
ENST00000402686.7:c.1273-391_1273-389delinsGAC	ENSP00000385797.3:n.1273-391_1273-389delinsGAC
ENST00000404875.6:c.922-391_922-389delinsGAC	ENSP00000384531.2:n.922-391_922-389delinsGAC
ENST00000423007.5:c.1273-391_1273-389delinsGAC	ENSP00000404119.1:n.1273-391_1273-389delinsGAC
ENST00000485278.5:n.1828-391_1828-389delinsGAC
NM_001077365.1:c.1273-391_1273-389delinsGAC	NP_001070833.1:n.1273-391_1273-389delinsGAC
NM_001077366.1:c.1111-391_1111-389delinsGAC	NP_001070834.1:n.1111-391_1111-389delinsGAC
NM_001136113.1:c.1273-391_1273-389delinsGAC	NP_001129585.1:n.1273-391_1273-389delinsGAC
NM_001136114.1:c.922-391_922-389delinsGAC	NP_001129586.1:n.922-391_922-389delinsGAC
NM_007171.3:c.1339-391_1339-389delinsGAC	NP_009102.3:n.1339-391_1339-389delinsGAC
XM_005272156.1:c.1339-391_1339-389delinsGAC	XP_005272213.1:n.1339-391_1339-389delinsGAC
XM_005272158.1:c.1177-391_1177-389delinsGAC	XP_005272215.1:n.1177-391_1177-389delinsGAC
XM_005272159.1:c.988-391_988-389delinsGAC	XP_005272216.1:n.988-391_988-389delinsGAC
XM_005272162.1:c.142-391_142-389delinsGAC	XP_005272219.1:n.142-391_142-389delinsGAC
XM_006716932.1:c.988-391_988-389delinsGAC	XP_006716995.1:n.988-391_988-389delinsGAC
XM_011518140.1:c.1192-391_1192-389delinsGAC	XP_011516442.1:n.1192-391_1192-389delinsGAC
XM_011518141.1:c.1126-391_1126-389delinsGAC	XP_011516443.1:n.1126-391_1126-389delinsGAC
XM_011518142.1:c.1030-391_1030-389delinsGAC	XP_011516444.1:n.1030-391_1030-389delinsGAC
XM_011518143.1:c.1024-391_1024-389delinsGAC	XP_011516445.1:n.1024-391_1024-389delinsGAC
XM_011518144.1:c.1339-391_1339-389delinsGAC	XP_011516446.1:n.1339-391_1339-389delinsGAC
XM_011518145.1:c.883-391_883-389delinsGAC	XP_011516447.1:n.883-391_883-389delinsGAC
XM_011518146.1:c.1024-391_1024-389delinsGAC	XP_011516448.1:n.1024-391_1024-389delinsGAC
XM_011518147.1:c.-90_-88delinsGAC	XP_011516449.1:n.-90_-88delinsGAC
XR_929703.1:n.1515-391_1515-389delinsGAC
NM_001353193.1:c.1339-391_1339-389delinsGAC	NP_001340122.1:n.1339-391_1339-389delinsGAC
NM_001353194.1:c.1111-391_1111-389delinsGAC	NP_001340123.1:n.1111-391_1111-389delinsGAC
NM_001353195.1:c.922-391_922-389delinsGAC	NP_001340124.1:n.922-391_922-389delinsGAC
NM_001353196.1:c.1183-391_1183-389delinsGAC	NP_001340125.1:n.1183-391_1183-389delinsGAC
NM_001353197.1:c.1177-391_1177-389delinsGAC	NP_001340126.1:n.1177-391_1177-389delinsGAC
NM_001353198.1:c.1177-391_1177-389delinsGAC	NP_001340127.1:n.1177-391_1177-389delinsGAC
NM_001353199.1:c.988-391_988-389delinsGAC	NP_001340128.1:n.988-391_988-389delinsGAC
NM_001353200.1:c.817-391_817-389delinsGAC	NP_001340129.1:n.817-391_817-389delinsGAC
NR_148391.1:n.1323-391_1323-389delinsGAC
NR_148392.1:n.1541-391_1541-389delinsGAC
NR_148393.1:n.1323-391_1323-389delinsGAC
NR_148394.1:n.1216-391_1216-389delinsGAC
NR_148395.1:n.1475-391_1475-389delinsGAC
NR_148396.1:n.1109-391_1109-389delinsGAC
NR_148397.1:n.1373-391_1373-389delinsGAC
NR_148398.1:n.1328-391_1328-389delinsGAC
NR_148399.1:n.1715-391_1715-389delinsGAC
NR_148400.1:n.1314-391_1314-389delinsGAC
XM_005272162.3:c.142-391_142-389delinsGAC	XP_005272219.1:n.142-391_142-389delinsGAC
XM_006716932.2:c.988-391_988-389delinsGAC	XP_006716995.1:n.988-391_988-389delinsGAC
XM_011518140.2:c.1192-391_1192-389delinsGAC	XP_011516442.1:n.1192-391_1192-389delinsGAC
XM_011518141.2:c.1126-391_1126-389delinsGAC	XP_011516443.1:n.1126-391_1126-389delinsGAC
XM_011518142.2:c.1030-391_1030-389delinsGAC	XP_011516444.1:n.1030-391_1030-389delinsGAC
XM_011518143.2:c.1024-391_1024-389delinsGAC	XP_011516445.1:n.1024-391_1024-389delinsGAC
XM_011518145.2:c.883-391_883-389delinsGAC	XP_011516447.1:n.883-391_883-389delinsGAC
XM_017014205.2:c.142-391_142-389delinsGAC	XP_016869694.1:n.142-391_142-389delinsGAC
XM_024447380.1:c.142-391_142-389delinsGAC	XP_024303148.1:n.142-391_142-389delinsGAC
XM_024447381.1:c.448-391_448-389delinsGAC	XP_024303149.1:n.448-391_448-389delinsGAC
XM_024447382.1:c.142-391_142-389delinsGAC	XP_024303150.1:n.142-391_142-389delinsGAC
XR_001746160.2:n.1443-391_1443-389delinsGAC
XR_001746162.2:n.1509-391_1509-389delinsGAC
XR_001746164.1:n.1226-391_1226-389delinsGAC
XR_001746166.2:n.1660-391_1660-389delinsGAC
XR_930402.2:n.383_385delinsGTC
NM_001077365.2:c.1273-391_1273-389delinsGAC MANE Select	NP_001070833.1:n.1273-391_1273-389delinsGAC
NM_001077366.2:c.1111-391_1111-389delinsGAC	NP_001070834.1:n.1111-391_1111-389delinsGAC
NM_001136113.2:c.1273-391_1273-389delinsGAC	NP_001129585.1:n.1273-391_1273-389delinsGAC
NM_001136114.2:c.922-391_922-389delinsGAC	NP_001129586.1:n.922-391_922-389delinsGAC
NM_001353193.2:c.1339-391_1339-389delinsGAC	NP_001340122.2:n.1339-391_1339-389delinsGAC
NM_001353194.2:c.1111-391_1111-389delinsGAC	NP_001340123.1:n.1111-391_1111-389delinsGAC
NM_001353195.2:c.922-391_922-389delinsGAC	NP_001340124.1:n.922-391_922-389delinsGAC
NM_001353196.2:c.1183-391_1183-389delinsGAC	NP_001340125.1:n.1183-391_1183-389delinsGAC
NM_001353197.2:c.1177-391_1177-389delinsGAC	NP_001340126.2:n.1177-391_1177-389delinsGAC
NM_001353198.2:c.1177-391_1177-389delinsGAC	NP_001340127.2:n.1177-391_1177-389delinsGAC
NM_001353199.2:c.988-391_988-389delinsGAC	NP_001340128.2:n.988-391_988-389delinsGAC
NM_001353200.2:c.817-391_817-389delinsGAC	NP_001340129.1:n.817-391_817-389delinsGAC
NM_001374689.1:c.1261-391_1261-389delinsGAC	NP_001361618.1:n.1261-391_1261-389delinsGAC
NM_001374690.1:c.1273-391_1273-389delinsGAC	NP_001361619.1:n.1273-391_1273-389delinsGAC
NM_001374691.1:c.922-391_922-389delinsGAC	NP_001361620.1:n.922-391_922-389delinsGAC
NM_001374692.1:c.922-391_922-389delinsGAC	NP_001361621.1:n.922-391_922-389delinsGAC
NM_001374693.1:c.922-391_922-389delinsGAC	NP_001361622.1:n.922-391_922-389delinsGAC
NM_001374695.1:c.883-391_883-389delinsGAC	NP_001361624.1:n.883-391_883-389delinsGAC
NM_007171.4:c.1339-391_1339-389delinsGAC	NP_009102.4:n.1339-391_1339-389delinsGAC
NR_148391.2:n.1307-391_1307-389delinsGAC
NR_148392.2:n.1525-391_1525-389delinsGAC
NR_148393.2:n.1307-391_1307-389delinsGAC
NR_148394.2:n.1200-391_1200-389delinsGAC
NR_148395.2:n.1459-391_1459-389delinsGAC
NR_148396.2:n.1093-391_1093-389delinsGAC
NR_148397.2:n.1357-391_1357-389delinsGAC
NR_148398.2:n.1312-391_1312-389delinsGAC
NR_148399.2:n.1699-391_1699-389delinsGAC
NR_148400.2:n.1298-391_1298-389delinsGAC