Canonical Allele Identifier: CA5293613

Gene: POMT1

Linked Data

• dbSNP Id: rs747595253
• ExAC: 9:134393583 TGAG / T
• gnomAD v2: 9-134393583-TGAG-T
• gnomAD v3: 9-131518196-TGAG-T
• gnomAD v4: 9-131518196-TGAG-T
• MyVariant Identifiers: chr9:g.134393584_134393586del (hg19) ; chr9:g.131518197_131518199del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518201_131518203del , CM000671.2:g.131518201_131518203del	GRCh38
NC_000009.11:g.134393588_134393590del , CM000671.1:g.134393588_134393590del	GRCh37
NC_000009.10:g.133383409_133383411del	NCBI36
NG_008896.1:g.20300_20302del
NG_008896.2:g.20300_20302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1111-244_1111-242del	ENSP00000343034.7:n.1111-244_1111-242del
ENST00000404875.7:n.1813-244_1813-242del
ENST00000423007.6:c.1330-244_1330-242del	ENSP00000404119.2:n.1330-244_1330-242del
ENST00000677295.2:c.*1617-244_*1617-242del	ENSP00000504346.2:n.*1617-244_*1617-242del
ENST00000678264.2:c.*1456-244_*1456-242del	ENSP00000503157.2:n.*1456-244_*1456-242del
ENST00000682070.1:n.1738-244_1738-242del
ENST00000682539.1:c.211-244_211-242del
ENST00000682813.1:n.1538-244_1538-242del
ENST00000683392.1:n.4020-244_4020-242del
ENST00000683712.1:n.1678-244_1678-242del
ENST00000683900.1:n.3173-244_3173-242del
ENST00000684062.1:n.1939-244_1939-242del
ENST00000684579.1:n.3119-244_3119-242del
ENST00000684679.1:n.500-244_500-242del
ENST00000341012.12:c.1111-244_1111-242del	ENSP00000343034.7:n.1111-244_1111-242del
ENST00000372220.5:c.142-244_142-242del	ENSP00000361294.5:n.142-244_142-242del
ENST00000372228.9:c.1339-244_1339-242del	ENSP00000361302.3:n.1339-244_1339-242del
ENST00000402686.8:c.1273-244_1273-242del MANE Select	ENSP00000385797.4:n.1273-244_1273-242del
ENST00000676640.1:c.1273-244_1273-242del	ENSP00000503281.1:n.1273-244_1273-242del
ENST00000676803.1:c.448-244_448-242del	ENSP00000503093.1:n.448-244_448-242del
ENST00000676835.1:c.*488-244_*488-242del	ENSP00000502911.1:n.*488-244_*488-242del
ENST00000677029.1:c.817-244_817-242del	ENSP00000502936.1:n.817-244_817-242del
ENST00000677099.1:c.*983-244_*983-242del	ENSP00000504553.1:n.*983-244_*983-242del
ENST00000677216.1:c.922-244_922-242del	ENSP00000503772.1:n.922-244_922-242del
ENST00000677221.1:n.145_147del
ENST00000677295.1:c.*650-244_*650-242del	ENSP00000504346.1:n.*650-244_*650-242del
ENST00000677444.1:c.1079-244_1079-242del
ENST00000677586.1:n.754-244_754-242del
ENST00000677626.1:c.922-244_922-242del	ENSP00000503552.1:n.922-244_922-242del
ENST00000677677.1:n.1233-244_1233-242del
ENST00000677853.1:c.*281-244_*281-242del	ENSP00000503488.1:n.*281-244_*281-242del
ENST00000677944.1:c.535-244_535-242del
ENST00000677983.1:n.209_211del
ENST00000678202.1:n.202_204del
ENST00000678264.1:c.*650-244_*650-242del	ENSP00000503157.1:n.*650-244_*650-242del
ENST00000678303.1:c.1183-244_1183-242del	ENSP00000503696.1:n.1183-244_1183-242del
ENST00000678366.1:c.*1522-244_*1522-242del	ENSP00000504353.1:n.*1522-244_*1522-242del
ENST00000678546.1:c.*1218-244_*1218-242del	ENSP00000503062.1:n.*1218-244_*1218-242del
ENST00000678548.1:c.*1345-244_*1345-242del	ENSP00000503934.1:n.*1345-244_*1345-242del
ENST00000678626.1:n.970-244_970-242del
ENST00000678733.1:c.354-244_354-242del
ENST00000678739.1:c.*1599-244_*1599-242del	ENSP00000503806.1:n.*1599-244_*1599-242del
ENST00000678795.1:n.360-244_360-242del
ENST00000678833.1:c.*720-244_*720-242del	ENSP00000503893.1:n.*720-244_*720-242del
ENST00000678942.1:c.453-244_453-242del	ENSP00000504690.1:n.453-244_453-242del
ENST00000679023.1:c.1111-244_1111-242del	ENSP00000503718.1:n.1111-244_1111-242del
ENST00000679076.1:c.892-244_892-242del
ENST00000679111.1:c.1273-244_1273-242del	ENSP00000504257.1:n.1273-244_1273-242del
ENST00000679189.1:c.922-244_922-242del	ENSP00000503356.1:n.922-244_922-242del
ENST00000341012.11:c.1111-244_1111-242del	ENSP00000343034.7:n.1111-244_1111-242del
ENST00000372228.7:c.1339-244_1339-242del	ENSP00000361302.3:n.1339-244_1339-242del
ENST00000402686.7:c.1273-244_1273-242del	ENSP00000385797.3:n.1273-244_1273-242del
ENST00000404875.6:c.922-244_922-242del	ENSP00000384531.2:n.922-244_922-242del
ENST00000423007.5:c.1273-244_1273-242del	ENSP00000404119.1:n.1273-244_1273-242del
ENST00000485278.5:n.1828-244_1828-242del
NM_001077365.1:c.1273-244_1273-242del	NP_001070833.1:n.1273-244_1273-242del
NM_001077366.1:c.1111-244_1111-242del	NP_001070834.1:n.1111-244_1111-242del
NM_001136113.1:c.1273-244_1273-242del	NP_001129585.1:n.1273-244_1273-242del
NM_001136114.1:c.922-244_922-242del	NP_001129586.1:n.922-244_922-242del
NM_007171.3:c.1339-244_1339-242del	NP_009102.3:n.1339-244_1339-242del
XM_005272156.1:c.1339-244_1339-242del	XP_005272213.1:n.1339-244_1339-242del
XM_005272158.1:c.1177-244_1177-242del	XP_005272215.1:n.1177-244_1177-242del
XM_005272159.1:c.988-244_988-242del	XP_005272216.1:n.988-244_988-242del
XM_005272162.1:c.142-244_142-242del	XP_005272219.1:n.142-244_142-242del
XM_006716932.1:c.988-244_988-242del	XP_006716995.1:n.988-244_988-242del
XM_011518140.1:c.1192-244_1192-242del	XP_011516442.1:n.1192-244_1192-242del
XM_011518141.1:c.1126-244_1126-242del	XP_011516443.1:n.1126-244_1126-242del
XM_011518142.1:c.1030-244_1030-242del	XP_011516444.1:n.1030-244_1030-242del
XM_011518143.1:c.1024-244_1024-242del	XP_011516445.1:n.1024-244_1024-242del
XM_011518144.1:c.1339-244_1339-242del	XP_011516446.1:n.1339-244_1339-242del
XM_011518145.1:c.883-244_883-242del	XP_011516447.1:n.883-244_883-242del
XM_011518146.1:c.1024-244_1024-242del	XP_011516448.1:n.1024-244_1024-242del
XM_011518147.1:c.58_60del	XP_011516449.1:p.Arg20del
XR_929703.1:n.1515-244_1515-242del
NM_001353193.1:c.1339-244_1339-242del	NP_001340122.1:n.1339-244_1339-242del
NM_001353194.1:c.1111-244_1111-242del	NP_001340123.1:n.1111-244_1111-242del
NM_001353195.1:c.922-244_922-242del	NP_001340124.1:n.922-244_922-242del
NM_001353196.1:c.1183-244_1183-242del	NP_001340125.1:n.1183-244_1183-242del
NM_001353197.1:c.1177-244_1177-242del	NP_001340126.1:n.1177-244_1177-242del
NM_001353198.1:c.1177-244_1177-242del	NP_001340127.1:n.1177-244_1177-242del
NM_001353199.1:c.988-244_988-242del	NP_001340128.1:n.988-244_988-242del
NM_001353200.1:c.817-244_817-242del	NP_001340129.1:n.817-244_817-242del
NR_148391.1:n.1323-244_1323-242del
NR_148392.1:n.1541-244_1541-242del
NR_148393.1:n.1323-244_1323-242del
NR_148394.1:n.1216-244_1216-242del
NR_148395.1:n.1475-244_1475-242del
NR_148396.1:n.1109-244_1109-242del
NR_148397.1:n.1373-244_1373-242del
NR_148398.1:n.1328-244_1328-242del
NR_148399.1:n.1715-244_1715-242del
NR_148400.1:n.1314-244_1314-242del
XM_005272162.3:c.142-244_142-242del	XP_005272219.1:n.142-244_142-242del
XM_006716932.2:c.988-244_988-242del	XP_006716995.1:n.988-244_988-242del
XM_011518140.2:c.1192-244_1192-242del	XP_011516442.1:n.1192-244_1192-242del
XM_011518141.2:c.1126-244_1126-242del	XP_011516443.1:n.1126-244_1126-242del
XM_011518142.2:c.1030-244_1030-242del	XP_011516444.1:n.1030-244_1030-242del
XM_011518143.2:c.1024-244_1024-242del	XP_011516445.1:n.1024-244_1024-242del
XM_011518145.2:c.883-244_883-242del	XP_011516447.1:n.883-244_883-242del
XM_017014205.2:c.142-244_142-242del	XP_016869694.1:n.142-244_142-242del
XM_024447380.1:c.142-244_142-242del	XP_024303148.1:n.142-244_142-242del
XM_024447381.1:c.448-244_448-242del	XP_024303149.1:n.448-244_448-242del
XM_024447382.1:c.142-244_142-242del	XP_024303150.1:n.142-244_142-242del
XR_001746160.2:n.1443-244_1443-242del
XR_001746162.2:n.1509-244_1509-242del
XR_001746164.1:n.1226-244_1226-242del
XR_001746166.2:n.1660-244_1660-242del
XR_930402.2:n.240_242del
NM_001077365.2:c.1273-244_1273-242del MANE Select	NP_001070833.1:n.1273-244_1273-242del
NM_001077366.2:c.1111-244_1111-242del	NP_001070834.1:n.1111-244_1111-242del
NM_001136113.2:c.1273-244_1273-242del	NP_001129585.1:n.1273-244_1273-242del
NM_001136114.2:c.922-244_922-242del	NP_001129586.1:n.922-244_922-242del
NM_001353193.2:c.1339-244_1339-242del	NP_001340122.2:n.1339-244_1339-242del
NM_001353194.2:c.1111-244_1111-242del	NP_001340123.1:n.1111-244_1111-242del
NM_001353195.2:c.922-244_922-242del	NP_001340124.1:n.922-244_922-242del
NM_001353196.2:c.1183-244_1183-242del	NP_001340125.1:n.1183-244_1183-242del
NM_001353197.2:c.1177-244_1177-242del	NP_001340126.2:n.1177-244_1177-242del
NM_001353198.2:c.1177-244_1177-242del	NP_001340127.2:n.1177-244_1177-242del
NM_001353199.2:c.988-244_988-242del	NP_001340128.2:n.988-244_988-242del
NM_001353200.2:c.817-244_817-242del	NP_001340129.1:n.817-244_817-242del
NM_001374689.1:c.1261-244_1261-242del	NP_001361618.1:n.1261-244_1261-242del
NM_001374690.1:c.1273-244_1273-242del	NP_001361619.1:n.1273-244_1273-242del
NM_001374691.1:c.922-244_922-242del	NP_001361620.1:n.922-244_922-242del
NM_001374692.1:c.922-244_922-242del	NP_001361621.1:n.922-244_922-242del
NM_001374693.1:c.922-244_922-242del	NP_001361622.1:n.922-244_922-242del
NM_001374695.1:c.883-244_883-242del	NP_001361624.1:n.883-244_883-242del
NM_007171.4:c.1339-244_1339-242del	NP_009102.4:n.1339-244_1339-242del
NR_148391.2:n.1307-244_1307-242del
NR_148392.2:n.1525-244_1525-242del
NR_148393.2:n.1307-244_1307-242del
NR_148394.2:n.1200-244_1200-242del
NR_148395.2:n.1459-244_1459-242del
NR_148396.2:n.1093-244_1093-242del
NR_148397.2:n.1357-244_1357-242del
NR_148398.2:n.1312-244_1312-242del
NR_148399.2:n.1699-244_1699-242del
NR_148400.2:n.1298-244_1298-242del