Canonical Allele Identifier: CA2692219649

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518092-TGCCAGATAGGGACTGAGACTTGCTCACTTTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518098_131518130del , CM000671.2:g.131518098_131518130del	GRCh38
NC_000009.11:g.134393485_134393517del , CM000671.1:g.134393485_134393517del	GRCh37
NC_000009.10:g.133383306_133383338del	NCBI36
NG_008896.1:g.20197_20229del
NG_008896.2:g.20197_20229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1111-347_1111-315del	ENSP00000343034.7:n.1111-347_1111-315del
ENST00000404875.7:n.1813-347_1813-315del
ENST00000423007.6:c.1330-347_1330-315del	ENSP00000404119.2:n.1330-347_1330-315del
ENST00000677295.2:c.*1617-347_*1617-315del	ENSP00000504346.2:n.*1617-347_*1617-315del
ENST00000678264.2:c.*1456-347_*1456-315del	ENSP00000503157.2:n.*1456-347_*1456-315del
ENST00000682070.1:n.1738-347_1738-315del
ENST00000682539.1:c.211-347_211-315del
ENST00000682813.1:n.1538-347_1538-315del
ENST00000683392.1:n.4020-347_4020-315del
ENST00000683712.1:n.1678-347_1678-315del
ENST00000683900.1:n.3173-347_3173-315del
ENST00000684062.1:n.1939-347_1939-315del
ENST00000684579.1:n.3119-347_3119-315del
ENST00000684679.1:n.500-347_500-315del
ENST00000341012.12:c.1111-347_1111-315del	ENSP00000343034.7:n.1111-347_1111-315del
ENST00000372220.5:c.142-347_142-315del	ENSP00000361294.5:n.142-347_142-315del
ENST00000372228.9:c.1339-347_1339-315del	ENSP00000361302.3:n.1339-347_1339-315del
ENST00000402686.8:c.1273-347_1273-315del MANE Select	ENSP00000385797.4:n.1273-347_1273-315del
ENST00000676640.1:c.1273-347_1273-315del	ENSP00000503281.1:n.1273-347_1273-315del
ENST00000676803.1:c.448-347_448-315del	ENSP00000503093.1:n.448-347_448-315del
ENST00000676835.1:c.*488-347_*488-315del	ENSP00000502911.1:n.*488-347_*488-315del
ENST00000677029.1:c.817-347_817-315del	ENSP00000502936.1:n.817-347_817-315del
ENST00000677099.1:c.*983-347_*983-315del	ENSP00000504553.1:n.*983-347_*983-315del
ENST00000677216.1:c.922-347_922-315del	ENSP00000503772.1:n.922-347_922-315del
ENST00000677221.1:n.42_74del
ENST00000677295.1:c.*650-347_*650-315del	ENSP00000504346.1:n.*650-347_*650-315del
ENST00000677444.1:c.1079-347_1079-315del
ENST00000677586.1:n.754-347_754-315del
ENST00000677626.1:c.922-347_922-315del	ENSP00000503552.1:n.922-347_922-315del
ENST00000677677.1:n.1233-347_1233-315del
ENST00000677853.1:c.*281-347_*281-315del	ENSP00000503488.1:n.*281-347_*281-315del
ENST00000677944.1:c.535-347_535-315del
ENST00000677983.1:n.106_138del
ENST00000678202.1:n.99_131del
ENST00000678264.1:c.*650-347_*650-315del	ENSP00000503157.1:n.*650-347_*650-315del
ENST00000678303.1:c.1183-347_1183-315del	ENSP00000503696.1:n.1183-347_1183-315del
ENST00000678366.1:c.*1522-347_*1522-315del	ENSP00000504353.1:n.*1522-347_*1522-315del
ENST00000678546.1:c.*1218-347_*1218-315del	ENSP00000503062.1:n.*1218-347_*1218-315del
ENST00000678548.1:c.*1345-347_*1345-315del	ENSP00000503934.1:n.*1345-347_*1345-315del
ENST00000678626.1:n.970-347_970-315del
ENST00000678733.1:c.354-347_354-315del
ENST00000678739.1:c.*1599-347_*1599-315del	ENSP00000503806.1:n.*1599-347_*1599-315del
ENST00000678795.1:n.360-347_360-315del
ENST00000678833.1:c.*720-347_*720-315del	ENSP00000503893.1:n.*720-347_*720-315del
ENST00000678942.1:c.453-347_453-315del	ENSP00000504690.1:n.453-347_453-315del
ENST00000679023.1:c.1111-347_1111-315del	ENSP00000503718.1:n.1111-347_1111-315del
ENST00000679076.1:c.892-347_892-315del
ENST00000679111.1:c.1273-347_1273-315del	ENSP00000504257.1:n.1273-347_1273-315del
ENST00000679189.1:c.922-347_922-315del	ENSP00000503356.1:n.922-347_922-315del
ENST00000341012.11:c.1111-347_1111-315del	ENSP00000343034.7:n.1111-347_1111-315del
ENST00000372228.7:c.1339-347_1339-315del	ENSP00000361302.3:n.1339-347_1339-315del
ENST00000402686.7:c.1273-347_1273-315del	ENSP00000385797.3:n.1273-347_1273-315del
ENST00000404875.6:c.922-347_922-315del	ENSP00000384531.2:n.922-347_922-315del
ENST00000423007.5:c.1273-347_1273-315del	ENSP00000404119.1:n.1273-347_1273-315del
ENST00000485278.5:n.1828-347_1828-315del
NM_001077365.1:c.1273-347_1273-315del	NP_001070833.1:n.1273-347_1273-315del
NM_001077366.1:c.1111-347_1111-315del	NP_001070834.1:n.1111-347_1111-315del
NM_001136113.1:c.1273-347_1273-315del	NP_001129585.1:n.1273-347_1273-315del
NM_001136114.1:c.922-347_922-315del	NP_001129586.1:n.922-347_922-315del
NM_007171.3:c.1339-347_1339-315del	NP_009102.3:n.1339-347_1339-315del
XM_005272156.1:c.1339-347_1339-315del	XP_005272213.1:n.1339-347_1339-315del
XM_005272158.1:c.1177-347_1177-315del	XP_005272215.1:n.1177-347_1177-315del
XM_005272159.1:c.988-347_988-315del	XP_005272216.1:n.988-347_988-315del
XM_005272162.1:c.142-347_142-315del	XP_005272219.1:n.142-347_142-315del
XM_006716932.1:c.988-347_988-315del	XP_006716995.1:n.988-347_988-315del
XM_011518140.1:c.1192-347_1192-315del	XP_011516442.1:n.1192-347_1192-315del
XM_011518141.1:c.1126-347_1126-315del	XP_011516443.1:n.1126-347_1126-315del
XM_011518142.1:c.1030-347_1030-315del	XP_011516444.1:n.1030-347_1030-315del
XM_011518143.1:c.1024-347_1024-315del	XP_011516445.1:n.1024-347_1024-315del
XM_011518144.1:c.1339-347_1339-315del	XP_011516446.1:n.1339-347_1339-315del
XM_011518145.1:c.883-347_883-315del	XP_011516447.1:n.883-347_883-315del
XM_011518146.1:c.1024-347_1024-315del	XP_011516448.1:n.1024-347_1024-315del
XM_011518147.1:c.-46_-14del	XP_011516449.1:n.-46_-14del
XR_929703.1:n.1515-347_1515-315del
NM_001353193.1:c.1339-347_1339-315del	NP_001340122.1:n.1339-347_1339-315del
NM_001353194.1:c.1111-347_1111-315del	NP_001340123.1:n.1111-347_1111-315del
NM_001353195.1:c.922-347_922-315del	NP_001340124.1:n.922-347_922-315del
NM_001353196.1:c.1183-347_1183-315del	NP_001340125.1:n.1183-347_1183-315del
NM_001353197.1:c.1177-347_1177-315del	NP_001340126.1:n.1177-347_1177-315del
NM_001353198.1:c.1177-347_1177-315del	NP_001340127.1:n.1177-347_1177-315del
NM_001353199.1:c.988-347_988-315del	NP_001340128.1:n.988-347_988-315del
NM_001353200.1:c.817-347_817-315del	NP_001340129.1:n.817-347_817-315del
NR_148391.1:n.1323-347_1323-315del
NR_148392.1:n.1541-347_1541-315del
NR_148393.1:n.1323-347_1323-315del
NR_148394.1:n.1216-347_1216-315del
NR_148395.1:n.1475-347_1475-315del
NR_148396.1:n.1109-347_1109-315del
NR_148397.1:n.1373-347_1373-315del
NR_148398.1:n.1328-347_1328-315del
NR_148399.1:n.1715-347_1715-315del
NR_148400.1:n.1314-347_1314-315del
XM_005272162.3:c.142-347_142-315del	XP_005272219.1:n.142-347_142-315del
XM_006716932.2:c.988-347_988-315del	XP_006716995.1:n.988-347_988-315del
XM_011518140.2:c.1192-347_1192-315del	XP_011516442.1:n.1192-347_1192-315del
XM_011518141.2:c.1126-347_1126-315del	XP_011516443.1:n.1126-347_1126-315del
XM_011518142.2:c.1030-347_1030-315del	XP_011516444.1:n.1030-347_1030-315del
XM_011518143.2:c.1024-347_1024-315del	XP_011516445.1:n.1024-347_1024-315del
XM_011518145.2:c.883-347_883-315del	XP_011516447.1:n.883-347_883-315del
XM_017014205.2:c.142-347_142-315del	XP_016869694.1:n.142-347_142-315del
XM_024447380.1:c.142-347_142-315del	XP_024303148.1:n.142-347_142-315del
XM_024447381.1:c.448-347_448-315del	XP_024303149.1:n.448-347_448-315del
XM_024447382.1:c.142-347_142-315del	XP_024303150.1:n.142-347_142-315del
XR_001746160.2:n.1443-347_1443-315del
XR_001746162.2:n.1509-347_1509-315del
XR_001746164.1:n.1226-347_1226-315del
XR_001746166.2:n.1660-347_1660-315del
XR_930402.2:n.314_346del
NM_001077365.2:c.1273-347_1273-315del MANE Select	NP_001070833.1:n.1273-347_1273-315del
NM_001077366.2:c.1111-347_1111-315del	NP_001070834.1:n.1111-347_1111-315del
NM_001136113.2:c.1273-347_1273-315del	NP_001129585.1:n.1273-347_1273-315del
NM_001136114.2:c.922-347_922-315del	NP_001129586.1:n.922-347_922-315del
NM_001353193.2:c.1339-347_1339-315del	NP_001340122.2:n.1339-347_1339-315del
NM_001353194.2:c.1111-347_1111-315del	NP_001340123.1:n.1111-347_1111-315del
NM_001353195.2:c.922-347_922-315del	NP_001340124.1:n.922-347_922-315del
NM_001353196.2:c.1183-347_1183-315del	NP_001340125.1:n.1183-347_1183-315del
NM_001353197.2:c.1177-347_1177-315del	NP_001340126.2:n.1177-347_1177-315del
NM_001353198.2:c.1177-347_1177-315del	NP_001340127.2:n.1177-347_1177-315del
NM_001353199.2:c.988-347_988-315del	NP_001340128.2:n.988-347_988-315del
NM_001353200.2:c.817-347_817-315del	NP_001340129.1:n.817-347_817-315del
NM_001374689.1:c.1261-347_1261-315del	NP_001361618.1:n.1261-347_1261-315del
NM_001374690.1:c.1273-347_1273-315del	NP_001361619.1:n.1273-347_1273-315del
NM_001374691.1:c.922-347_922-315del	NP_001361620.1:n.922-347_922-315del
NM_001374692.1:c.922-347_922-315del	NP_001361621.1:n.922-347_922-315del
NM_001374693.1:c.922-347_922-315del	NP_001361622.1:n.922-347_922-315del
NM_001374695.1:c.883-347_883-315del	NP_001361624.1:n.883-347_883-315del
NM_007171.4:c.1339-347_1339-315del	NP_009102.4:n.1339-347_1339-315del
NR_148391.2:n.1307-347_1307-315del
NR_148392.2:n.1525-347_1525-315del
NR_148393.2:n.1307-347_1307-315del
NR_148394.2:n.1200-347_1200-315del
NR_148395.2:n.1459-347_1459-315del
NR_148396.2:n.1093-347_1093-315del
NR_148397.2:n.1357-347_1357-315del
NR_148398.2:n.1312-347_1312-315del
NR_148399.2:n.1699-347_1699-315del
NR_148400.2:n.1298-347_1298-315del