Canonical Allele Identifier: CA5293641
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs773342894
ExAC: 9:134393750 ATTGT / A
gnomAD v2: 9-134393750-ATTGT-A
gnomAD v4: 9-131518363-ATTGT-A
MyVariant Identifiers: chr9:g.134393751_134393754del (hg19) chr9:g.131518364_131518367del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518367_131518370del , CM000671.2:g.131518367_131518370del GRCh38
NC_000009.11:g.134393754_134393757del , CM000671.1:g.134393754_134393757del GRCh37
NC_000009.10:g.133383575_133383578del NCBI36
NG_008896.1:g.20466_20469del
NG_008896.2:g.20466_20469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1111-78_1111-75del ENSP00000343034.7:n.1111-78_1111-75del
ENST00000404875.7:n.1813-78_1813-75del
ENST00000423007.6:c.1330-78_1330-75del ENSP00000404119.2:n.1330-78_1330-75del
ENST00000677295.2:c.*1617-78_*1617-75del ENSP00000504346.2:n.*1617-78_*1617-75del
ENST00000678264.2:c.*1456-78_*1456-75del ENSP00000503157.2:n.*1456-78_*1456-75del
ENST00000682070.1:n.1738-78_1738-75del
ENST00000682535.1:n.30+14_30+17del
ENST00000682539.1:c.211-78_211-75del
ENST00000682813.1:n.1538-78_1538-75del
ENST00000683392.1:n.4020-78_4020-75del
ENST00000683712.1:n.1678-78_1678-75del
ENST00000683900.1:n.3173-78_3173-75del
ENST00000684062.1:n.1939-78_1939-75del
ENST00000684579.1:n.3119-78_3119-75del
ENST00000684679.1:n.500-78_500-75del
ENST00000341012.12:c.1111-78_1111-75del ENSP00000343034.7:n.1111-78_1111-75del
ENST00000372220.5:c.142-78_142-75del ENSP00000361294.5:n.142-78_142-75del
ENST00000372228.9:c.1339-78_1339-75del ENSP00000361302.3:n.1339-78_1339-75del
ENST00000402686.8:c.1273-78_1273-75del MANE Select ENSP00000385797.4:n.1273-78_1273-75del
ENST00000676640.1:c.1273-78_1273-75del ENSP00000503281.1:n.1273-78_1273-75del
ENST00000676803.1:c.448-78_448-75del ENSP00000503093.1:n.448-78_448-75del
ENST00000676835.1:c.*488-78_*488-75del ENSP00000502911.1:n.*488-78_*488-75del
ENST00000677029.1:c.817-78_817-75del ENSP00000502936.1:n.817-78_817-75del
ENST00000677099.1:c.*983-78_*983-75del ENSP00000504553.1:n.*983-78_*983-75del
ENST00000677216.1:c.922-78_922-75del ENSP00000503772.1:n.922-78_922-75del
ENST00000677221.1:n.297+14_297+17del
ENST00000677295.1:c.*650-78_*650-75del ENSP00000504346.1:n.*650-78_*650-75del
ENST00000677444.1:c.1079-78_1079-75del
ENST00000677586.1:n.754-78_754-75del
ENST00000677626.1:c.922-78_922-75del ENSP00000503552.1:n.922-78_922-75del
ENST00000677677.1:n.1233-78_1233-75del
ENST00000677853.1:c.*281-78_*281-75del ENSP00000503488.1:n.*281-78_*281-75del
ENST00000677944.1:c.535-78_535-75del
ENST00000677983.1:n.361+14_361+17del
ENST00000678202.1:n.292+76_293-75del
ENST00000678264.1:c.*650-78_*650-75del ENSP00000503157.1:n.*650-78_*650-75del
ENST00000678303.1:c.1183-78_1183-75del ENSP00000503696.1:n.1183-78_1183-75del
ENST00000678366.1:c.*1522-78_*1522-75del ENSP00000504353.1:n.*1522-78_*1522-75del
ENST00000678546.1:c.*1218-78_*1218-75del ENSP00000503062.1:n.*1218-78_*1218-75del
ENST00000678548.1:c.*1345-78_*1345-75del ENSP00000503934.1:n.*1345-78_*1345-75del
ENST00000678626.1:n.970-78_970-75del
ENST00000678733.1:c.354-78_354-75del
ENST00000678739.1:c.*1599-78_*1599-75del ENSP00000503806.1:n.*1599-78_*1599-75del
ENST00000678795.1:n.360-78_360-75del
ENST00000678833.1:c.*720-78_*720-75del ENSP00000503893.1:n.*720-78_*720-75del
ENST00000678942.1:c.453-78_453-75del ENSP00000504690.1:n.453-78_453-75del
ENST00000679023.1:c.1111-78_1111-75del ENSP00000503718.1:n.1111-78_1111-75del
ENST00000679076.1:c.892-78_892-75del
ENST00000679111.1:c.1273-78_1273-75del ENSP00000504257.1:n.1273-78_1273-75del
ENST00000679189.1:c.922-78_922-75del ENSP00000503356.1:n.922-78_922-75del
ENST00000341012.11:c.1111-78_1111-75del ENSP00000343034.7:n.1111-78_1111-75del
ENST00000372220.4:c.135+14_135+17del ENSP00000361294.4:n.135+14_135+17del
ENST00000372228.7:c.1339-78_1339-75del ENSP00000361302.3:n.1339-78_1339-75del
ENST00000402686.7:c.1273-78_1273-75del ENSP00000385797.3:n.1273-78_1273-75del
ENST00000404875.6:c.922-78_922-75del ENSP00000384531.2:n.922-78_922-75del
ENST00000423007.5:c.1273-78_1273-75del ENSP00000404119.1:n.1273-78_1273-75del
ENST00000485278.5:n.1828-78_1828-75del
NM_001077365.1:c.1273-78_1273-75del NP_001070833.1:n.1273-78_1273-75del
NM_001077366.1:c.1111-78_1111-75del NP_001070834.1:n.1111-78_1111-75del
NM_001136113.1:c.1273-78_1273-75del NP_001129585.1:n.1273-78_1273-75del
NM_001136114.1:c.922-78_922-75del NP_001129586.1:n.922-78_922-75del
NM_007171.3:c.1339-78_1339-75del NP_009102.3:n.1339-78_1339-75del
XM_005272156.1:c.1339-78_1339-75del XP_005272213.1:n.1339-78_1339-75del
XM_005272158.1:c.1177-78_1177-75del XP_005272215.1:n.1177-78_1177-75del
XM_005272159.1:c.988-78_988-75del XP_005272216.1:n.988-78_988-75del
XM_005272162.1:c.142-78_142-75del XP_005272219.1:n.142-78_142-75del
XM_006716932.1:c.988-78_988-75del XP_006716995.1:n.988-78_988-75del
XM_011518140.1:c.1192-78_1192-75del XP_011516442.1:n.1192-78_1192-75del
XM_011518141.1:c.1126-78_1126-75del XP_011516443.1:n.1126-78_1126-75del
XM_011518142.1:c.1030-78_1030-75del XP_011516444.1:n.1030-78_1030-75del
XM_011518143.1:c.1024-78_1024-75del XP_011516445.1:n.1024-78_1024-75del
XM_011518144.1:c.1339-78_1339-75del XP_011516446.1:n.1339-78_1339-75del
XM_011518145.1:c.883-78_883-75del XP_011516447.1:n.883-78_883-75del
XM_011518146.1:c.1024-78_1024-75del XP_011516448.1:n.1024-78_1024-75del
XM_011518147.1:c.210+14_210+17del XP_011516449.1:n.210+14_210+17del
XR_929703.1:n.1515-78_1515-75del
NM_001353193.1:c.1339-78_1339-75del NP_001340122.1:n.1339-78_1339-75del
NM_001353194.1:c.1111-78_1111-75del NP_001340123.1:n.1111-78_1111-75del
NM_001353195.1:c.922-78_922-75del NP_001340124.1:n.922-78_922-75del
NM_001353196.1:c.1183-78_1183-75del NP_001340125.1:n.1183-78_1183-75del
NM_001353197.1:c.1177-78_1177-75del NP_001340126.1:n.1177-78_1177-75del
NM_001353198.1:c.1177-78_1177-75del NP_001340127.1:n.1177-78_1177-75del
NM_001353199.1:c.988-78_988-75del NP_001340128.1:n.988-78_988-75del
NM_001353200.1:c.817-78_817-75del NP_001340129.1:n.817-78_817-75del
NR_148391.1:n.1323-78_1323-75del
NR_148392.1:n.1541-78_1541-75del
NR_148393.1:n.1323-78_1323-75del
NR_148394.1:n.1216-78_1216-75del
NR_148395.1:n.1475-78_1475-75del
NR_148396.1:n.1109-78_1109-75del
NR_148397.1:n.1373-78_1373-75del
NR_148398.1:n.1328-78_1328-75del
NR_148399.1:n.1715-78_1715-75del
NR_148400.1:n.1314-78_1314-75del
XM_005272162.3:c.142-78_142-75del XP_005272219.1:n.142-78_142-75del
XM_006716932.2:c.988-78_988-75del XP_006716995.1:n.988-78_988-75del
XM_011518140.2:c.1192-78_1192-75del XP_011516442.1:n.1192-78_1192-75del
XM_011518141.2:c.1126-78_1126-75del XP_011516443.1:n.1126-78_1126-75del
XM_011518142.2:c.1030-78_1030-75del XP_011516444.1:n.1030-78_1030-75del
XM_011518143.2:c.1024-78_1024-75del XP_011516445.1:n.1024-78_1024-75del
XM_011518145.2:c.883-78_883-75del XP_011516447.1:n.883-78_883-75del
XM_017014205.2:c.142-78_142-75del XP_016869694.1:n.142-78_142-75del
XM_024447380.1:c.142-78_142-75del XP_024303148.1:n.142-78_142-75del
XM_024447381.1:c.448-78_448-75del XP_024303149.1:n.448-78_448-75del
XM_024447382.1:c.142-78_142-75del XP_024303150.1:n.142-78_142-75del
XR_001746160.2:n.1443-78_1443-75del
XR_001746162.2:n.1509-78_1509-75del
XR_001746164.1:n.1226-78_1226-75del
XR_001746166.2:n.1660-78_1660-75del
XR_930402.2:n.72_75del
NM_001077365.2:c.1273-78_1273-75del MANE Select NP_001070833.1:n.1273-78_1273-75del
NM_001077366.2:c.1111-78_1111-75del NP_001070834.1:n.1111-78_1111-75del
NM_001136113.2:c.1273-78_1273-75del NP_001129585.1:n.1273-78_1273-75del
NM_001136114.2:c.922-78_922-75del NP_001129586.1:n.922-78_922-75del
NM_001353193.2:c.1339-78_1339-75del NP_001340122.2:n.1339-78_1339-75del
NM_001353194.2:c.1111-78_1111-75del NP_001340123.1:n.1111-78_1111-75del
NM_001353195.2:c.922-78_922-75del NP_001340124.1:n.922-78_922-75del
NM_001353196.2:c.1183-78_1183-75del NP_001340125.1:n.1183-78_1183-75del
NM_001353197.2:c.1177-78_1177-75del NP_001340126.2:n.1177-78_1177-75del
NM_001353198.2:c.1177-78_1177-75del NP_001340127.2:n.1177-78_1177-75del
NM_001353199.2:c.988-78_988-75del NP_001340128.2:n.988-78_988-75del
NM_001353200.2:c.817-78_817-75del NP_001340129.1:n.817-78_817-75del
NM_001374689.1:c.1261-78_1261-75del NP_001361618.1:n.1261-78_1261-75del
NM_001374690.1:c.1273-78_1273-75del NP_001361619.1:n.1273-78_1273-75del
NM_001374691.1:c.922-78_922-75del NP_001361620.1:n.922-78_922-75del
NM_001374692.1:c.922-78_922-75del NP_001361621.1:n.922-78_922-75del
NM_001374693.1:c.922-78_922-75del NP_001361622.1:n.922-78_922-75del
NM_001374695.1:c.883-78_883-75del NP_001361624.1:n.883-78_883-75del
NM_007171.4:c.1339-78_1339-75del NP_009102.4:n.1339-78_1339-75del
NR_148391.2:n.1307-78_1307-75del
NR_148392.2:n.1525-78_1525-75del
NR_148393.2:n.1307-78_1307-75del
NR_148394.2:n.1200-78_1200-75del
NR_148395.2:n.1459-78_1459-75del
NR_148396.2:n.1093-78_1093-75del
NR_148397.2:n.1357-78_1357-75del
NR_148398.2:n.1312-78_1312-75del
NR_148399.2:n.1699-78_1699-75del
NR_148400.2:n.1298-78_1298-75del
Search 100 bp 5'
Search 100 bp 3'