Canonical Allele Identifier: CA860555179

Gene: POMT1

Linked Data

• dbSNP Id: rs1425710096
• gnomAD v3: 9-131518054-GAC-G
• gnomAD v4: 9-131518054-GAC-G
• MyVariant Identifiers: chr9:g.134393442_134393443del (hg19) ; chr9:g.131518055_131518056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518056_131518057del , CM000671.2:g.131518056_131518057del	GRCh38
NC_000009.11:g.134393443_134393444del , CM000671.1:g.134393443_134393444del	GRCh37
NC_000009.10:g.133383264_133383265del	NCBI36
NG_008896.1:g.20155_20156del
NG_008896.2:g.20155_20156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1111-389_1111-388del	ENSP00000343034.7:n.1111-389_1111-388del
ENST00000404875.7:n.1813-389_1813-388del
ENST00000423007.6:c.1330-389_1330-388del	ENSP00000404119.2:n.1330-389_1330-388del
ENST00000677295.2:c.*1617-389_*1617-388del	ENSP00000504346.2:n.*1617-389_*1617-388del
ENST00000678264.2:c.*1456-389_*1456-388del	ENSP00000503157.2:n.*1456-389_*1456-388del
ENST00000682070.1:n.1738-389_1738-388del
ENST00000682539.1:c.211-389_211-388del
ENST00000682813.1:n.1538-389_1538-388del
ENST00000683392.1:n.4020-389_4020-388del
ENST00000683712.1:n.1678-389_1678-388del
ENST00000683900.1:n.3173-389_3173-388del
ENST00000684062.1:n.1939-389_1939-388del
ENST00000684579.1:n.3119-389_3119-388del
ENST00000684679.1:n.500-389_500-388del
ENST00000341012.12:c.1111-389_1111-388del	ENSP00000343034.7:n.1111-389_1111-388del
ENST00000372220.5:c.142-389_142-388del	ENSP00000361294.5:n.142-389_142-388del
ENST00000372228.9:c.1339-389_1339-388del	ENSP00000361302.3:n.1339-389_1339-388del
ENST00000402686.8:c.1273-389_1273-388del MANE Select	ENSP00000385797.4:n.1273-389_1273-388del
ENST00000676640.1:c.1273-389_1273-388del	ENSP00000503281.1:n.1273-389_1273-388del
ENST00000676803.1:c.448-389_448-388del	ENSP00000503093.1:n.448-389_448-388del
ENST00000676835.1:c.*488-389_*488-388del	ENSP00000502911.1:n.*488-389_*488-388del
ENST00000677029.1:c.817-389_817-388del	ENSP00000502936.1:n.817-389_817-388del
ENST00000677099.1:c.*983-389_*983-388del	ENSP00000504553.1:n.*983-389_*983-388del
ENST00000677216.1:c.922-389_922-388del	ENSP00000503772.1:n.922-389_922-388del
ENST00000677295.1:c.*650-389_*650-388del	ENSP00000504346.1:n.*650-389_*650-388del
ENST00000677444.1:c.1079-389_1079-388del
ENST00000677586.1:n.754-389_754-388del
ENST00000677626.1:c.922-389_922-388del	ENSP00000503552.1:n.922-389_922-388del
ENST00000677677.1:n.1233-389_1233-388del
ENST00000677853.1:c.*281-389_*281-388del	ENSP00000503488.1:n.*281-389_*281-388del
ENST00000677944.1:c.535-389_535-388del
ENST00000677983.1:n.64_65del
ENST00000678202.1:n.57_58del
ENST00000678264.1:c.*650-389_*650-388del	ENSP00000503157.1:n.*650-389_*650-388del
ENST00000678303.1:c.1183-389_1183-388del	ENSP00000503696.1:n.1183-389_1183-388del
ENST00000678366.1:c.*1522-389_*1522-388del	ENSP00000504353.1:n.*1522-389_*1522-388del
ENST00000678546.1:c.*1218-389_*1218-388del	ENSP00000503062.1:n.*1218-389_*1218-388del
ENST00000678548.1:c.*1345-389_*1345-388del	ENSP00000503934.1:n.*1345-389_*1345-388del
ENST00000678626.1:n.970-389_970-388del
ENST00000678733.1:c.354-389_354-388del
ENST00000678739.1:c.*1599-389_*1599-388del	ENSP00000503806.1:n.*1599-389_*1599-388del
ENST00000678795.1:n.360-389_360-388del
ENST00000678833.1:c.*720-389_*720-388del	ENSP00000503893.1:n.*720-389_*720-388del
ENST00000678942.1:c.453-389_453-388del	ENSP00000504690.1:n.453-389_453-388del
ENST00000679023.1:c.1111-389_1111-388del	ENSP00000503718.1:n.1111-389_1111-388del
ENST00000679076.1:c.892-389_892-388del
ENST00000679111.1:c.1273-389_1273-388del	ENSP00000504257.1:n.1273-389_1273-388del
ENST00000679189.1:c.922-389_922-388del	ENSP00000503356.1:n.922-389_922-388del
ENST00000341012.11:c.1111-389_1111-388del	ENSP00000343034.7:n.1111-389_1111-388del
ENST00000372228.7:c.1339-389_1339-388del	ENSP00000361302.3:n.1339-389_1339-388del
ENST00000402686.7:c.1273-389_1273-388del	ENSP00000385797.3:n.1273-389_1273-388del
ENST00000404875.6:c.922-389_922-388del	ENSP00000384531.2:n.922-389_922-388del
ENST00000423007.5:c.1273-389_1273-388del	ENSP00000404119.1:n.1273-389_1273-388del
ENST00000485278.5:n.1828-389_1828-388del
NM_001077365.1:c.1273-389_1273-388del	NP_001070833.1:n.1273-389_1273-388del
NM_001077366.1:c.1111-389_1111-388del	NP_001070834.1:n.1111-389_1111-388del
NM_001136113.1:c.1273-389_1273-388del	NP_001129585.1:n.1273-389_1273-388del
NM_001136114.1:c.922-389_922-388del	NP_001129586.1:n.922-389_922-388del
NM_007171.3:c.1339-389_1339-388del	NP_009102.3:n.1339-389_1339-388del
XM_005272156.1:c.1339-389_1339-388del	XP_005272213.1:n.1339-389_1339-388del
XM_005272158.1:c.1177-389_1177-388del	XP_005272215.1:n.1177-389_1177-388del
XM_005272159.1:c.988-389_988-388del	XP_005272216.1:n.988-389_988-388del
XM_005272162.1:c.142-389_142-388del	XP_005272219.1:n.142-389_142-388del
XM_006716932.1:c.988-389_988-388del	XP_006716995.1:n.988-389_988-388del
XM_011518140.1:c.1192-389_1192-388del	XP_011516442.1:n.1192-389_1192-388del
XM_011518141.1:c.1126-389_1126-388del	XP_011516443.1:n.1126-389_1126-388del
XM_011518142.1:c.1030-389_1030-388del	XP_011516444.1:n.1030-389_1030-388del
XM_011518143.1:c.1024-389_1024-388del	XP_011516445.1:n.1024-389_1024-388del
XM_011518144.1:c.1339-389_1339-388del	XP_011516446.1:n.1339-389_1339-388del
XM_011518145.1:c.883-389_883-388del	XP_011516447.1:n.883-389_883-388del
XM_011518146.1:c.1024-389_1024-388del	XP_011516448.1:n.1024-389_1024-388del
XM_011518147.1:c.-88_-87del	XP_011516449.1:n.-88_-87del
XR_929703.1:n.1515-389_1515-388del
NM_001353193.1:c.1339-389_1339-388del	NP_001340122.1:n.1339-389_1339-388del
NM_001353194.1:c.1111-389_1111-388del	NP_001340123.1:n.1111-389_1111-388del
NM_001353195.1:c.922-389_922-388del	NP_001340124.1:n.922-389_922-388del
NM_001353196.1:c.1183-389_1183-388del	NP_001340125.1:n.1183-389_1183-388del
NM_001353197.1:c.1177-389_1177-388del	NP_001340126.1:n.1177-389_1177-388del
NM_001353198.1:c.1177-389_1177-388del	NP_001340127.1:n.1177-389_1177-388del
NM_001353199.1:c.988-389_988-388del	NP_001340128.1:n.988-389_988-388del
NM_001353200.1:c.817-389_817-388del	NP_001340129.1:n.817-389_817-388del
NR_148391.1:n.1323-389_1323-388del
NR_148392.1:n.1541-389_1541-388del
NR_148393.1:n.1323-389_1323-388del
NR_148394.1:n.1216-389_1216-388del
NR_148395.1:n.1475-389_1475-388del
NR_148396.1:n.1109-389_1109-388del
NR_148397.1:n.1373-389_1373-388del
NR_148398.1:n.1328-389_1328-388del
NR_148399.1:n.1715-389_1715-388del
NR_148400.1:n.1314-389_1314-388del
XM_005272162.3:c.142-389_142-388del	XP_005272219.1:n.142-389_142-388del
XM_006716932.2:c.988-389_988-388del	XP_006716995.1:n.988-389_988-388del
XM_011518140.2:c.1192-389_1192-388del	XP_011516442.1:n.1192-389_1192-388del
XM_011518141.2:c.1126-389_1126-388del	XP_011516443.1:n.1126-389_1126-388del
XM_011518142.2:c.1030-389_1030-388del	XP_011516444.1:n.1030-389_1030-388del
XM_011518143.2:c.1024-389_1024-388del	XP_011516445.1:n.1024-389_1024-388del
XM_011518145.2:c.883-389_883-388del	XP_011516447.1:n.883-389_883-388del
XM_017014205.2:c.142-389_142-388del	XP_016869694.1:n.142-389_142-388del
XM_024447380.1:c.142-389_142-388del	XP_024303148.1:n.142-389_142-388del
XM_024447381.1:c.448-389_448-388del	XP_024303149.1:n.448-389_448-388del
XM_024447382.1:c.142-389_142-388del	XP_024303150.1:n.142-389_142-388del
XR_001746160.2:n.1443-389_1443-388del
XR_001746162.2:n.1509-389_1509-388del
XR_001746164.1:n.1226-389_1226-388del
XR_001746166.2:n.1660-389_1660-388del
XR_930402.2:n.383_384del
NM_001077365.2:c.1273-389_1273-388del MANE Select	NP_001070833.1:n.1273-389_1273-388del
NM_001077366.2:c.1111-389_1111-388del	NP_001070834.1:n.1111-389_1111-388del
NM_001136113.2:c.1273-389_1273-388del	NP_001129585.1:n.1273-389_1273-388del
NM_001136114.2:c.922-389_922-388del	NP_001129586.1:n.922-389_922-388del
NM_001353193.2:c.1339-389_1339-388del	NP_001340122.2:n.1339-389_1339-388del
NM_001353194.2:c.1111-389_1111-388del	NP_001340123.1:n.1111-389_1111-388del
NM_001353195.2:c.922-389_922-388del	NP_001340124.1:n.922-389_922-388del
NM_001353196.2:c.1183-389_1183-388del	NP_001340125.1:n.1183-389_1183-388del
NM_001353197.2:c.1177-389_1177-388del	NP_001340126.2:n.1177-389_1177-388del
NM_001353198.2:c.1177-389_1177-388del	NP_001340127.2:n.1177-389_1177-388del
NM_001353199.2:c.988-389_988-388del	NP_001340128.2:n.988-389_988-388del
NM_001353200.2:c.817-389_817-388del	NP_001340129.1:n.817-389_817-388del
NM_001374689.1:c.1261-389_1261-388del	NP_001361618.1:n.1261-389_1261-388del
NM_001374690.1:c.1273-389_1273-388del	NP_001361619.1:n.1273-389_1273-388del
NM_001374691.1:c.922-389_922-388del	NP_001361620.1:n.922-389_922-388del
NM_001374692.1:c.922-389_922-388del	NP_001361621.1:n.922-389_922-388del
NM_001374693.1:c.922-389_922-388del	NP_001361622.1:n.922-389_922-388del
NM_001374695.1:c.883-389_883-388del	NP_001361624.1:n.883-389_883-388del
NM_007171.4:c.1339-389_1339-388del	NP_009102.4:n.1339-389_1339-388del
NR_148391.2:n.1307-389_1307-388del
NR_148392.2:n.1525-389_1525-388del
NR_148393.2:n.1307-389_1307-388del
NR_148394.2:n.1200-389_1200-388del
NR_148395.2:n.1459-389_1459-388del
NR_148396.2:n.1093-389_1093-388del
NR_148397.2:n.1357-389_1357-388del
NR_148398.2:n.1312-389_1312-388del
NR_148399.2:n.1699-389_1699-388del
NR_148400.2:n.1298-389_1298-388del