Canonical Allele Identifier: CA916083075

Gene: POMT1

Linked Data

• ClinVar Variation Id: 834565
• ClinVar RCV Id: RCV001035278
• dbSNP Id: rs1949322859

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518939_131518941del , CM000671.2:g.131518939_131518941del	GRCh38
NC_000009.11:g.134394326_134394328del , CM000671.1:g.134394326_134394328del	GRCh37
NC_000009.10:g.133384147_133384149del	NCBI36
NG_008896.1:g.21038_21040del
NG_008896.2:g.21038_21040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1306_1308del	ENSP00000343034.7:p.Glu436del
ENST00000404875.7:n.2008_2010del
ENST00000423007.6:c.1525_1527del	ENSP00000404119.2:p.Glu509del
ENST00000677295.2:c.*1812_*1814del	ENSP00000504346.2:n.*1812_*1814del
ENST00000678264.2:c.*1651_*1653del	ENSP00000503157.2:n.*1651_*1653del
ENST00000682070.1:n.1933_1935del
ENST00000682539.1:c.406_408del
ENST00000682813.1:n.1872_1874del
ENST00000683392.1:n.4215_4217del
ENST00000683712.1:n.1873_1875del
ENST00000683900.1:n.3368_3370del
ENST00000684062.1:n.2134_2136del
ENST00000684579.1:n.3314_3316del
ENST00000684679.1:n.695_697del
ENST00000341012.12:c.1306_1308del	ENSP00000343034.7:p.Glu436del
ENST00000372220.5:c.337_339del	ENSP00000361294.5:p.Glu113del
ENST00000372228.9:c.1534_1536del	ENSP00000361302.3:p.Glu512del
ENST00000402686.8:c.1468_1470del MANE Select	ENSP00000385797.4:p.Glu490del
ENST00000676640.1:c.1468_1470del	ENSP00000503281.1:p.Glu490del
ENST00000676803.1:c.643_645del	ENSP00000503093.1:p.Glu215del
ENST00000676835.1:c.*683_*685del	ENSP00000502911.1:n.*683_*685del
ENST00000677029.1:c.1012_1014del	ENSP00000502936.1:p.Glu338del
ENST00000677099.1:c.*1178_*1180del	ENSP00000504553.1:n.*1178_*1180del
ENST00000677216.1:c.1117_1119del	ENSP00000503772.1:p.Glu373del
ENST00000677221.1:n.493_495del
ENST00000677295.1:c.*845_*847del	ENSP00000504346.1:n.*845_*847del
ENST00000677444.1:c.1413_1415del
ENST00000677586.1:n.949_951del
ENST00000677626.1:c.1117_1119del	ENSP00000503552.1:p.Glu373del
ENST00000677677.1:n.1428_1430del
ENST00000677853.1:c.*476_*478del	ENSP00000503488.1:n.*476_*478del
ENST00000678202.1:n.627_629del
ENST00000678264.1:c.*845_*847del	ENSP00000503157.1:n.*845_*847del
ENST00000678303.1:c.1378_1380del	ENSP00000503696.1:p.Glu460del
ENST00000678366.1:c.*1717_*1719del	ENSP00000504353.1:n.*1717_*1719del
ENST00000678546.1:c.*1413_*1415del	ENSP00000503062.1:n.*1413_*1415del
ENST00000678548.1:c.*1540_*1542del	ENSP00000503934.1:n.*1540_*1542del
ENST00000678626.1:n.1304_1306del
ENST00000678733.1:c.549_551del
ENST00000678739.1:c.*1794_*1796del	ENSP00000503806.1:n.*1794_*1796del
ENST00000678833.1:c.*915_*917del	ENSP00000503893.1:n.*915_*917del
ENST00000679023.1:c.1306_1308del	ENSP00000503718.1:p.Glu436del
ENST00000679076.1:c.1087_1089del
ENST00000679111.1:c.*224_*226del	ENSP00000504257.1:n.*224_*226del
ENST00000679189.1:c.1117_1119del	ENSP00000503356.1:p.Glu373del
ENST00000341012.11:c.1306_1308del	ENSP00000343034.7:p.Glu436del
ENST00000372220.4:c.331_333del	ENSP00000361294.4:p.Glu111del
ENST00000372228.7:c.1534_1536del	ENSP00000361302.3:p.Glu512del
ENST00000402686.7:c.1468_1470del	ENSP00000385797.3:p.Glu490del
ENST00000404875.6:c.1117_1119del	ENSP00000384531.2:p.Glu373del
ENST00000423007.5:c.1468_1470del	ENSP00000404119.1:p.Glu490del
ENST00000467848.1:n.172_174del
ENST00000485278.5:n.2023_2025del
NM_001077365.1:c.1468_1470del	NP_001070833.1:p.Glu490del
NM_001077366.1:c.1306_1308del	NP_001070834.1:p.Glu436del
NM_001136113.1:c.1468_1470del	NP_001129585.1:p.Glu490del
NM_001136114.1:c.1117_1119del	NP_001129586.1:p.Glu373del
NM_007171.3:c.1534_1536del	NP_009102.3:p.Glu512del
XM_005272156.1:c.1534_1536del	XP_005272213.1:p.Glu512del
XM_005272158.1:c.1372_1374del	XP_005272215.1:p.Glu458del
XM_005272159.1:c.1183_1185del	XP_005272216.1:p.Glu395del
XM_005272162.1:c.337_339del	XP_005272219.1:p.Glu113del
XM_006716932.1:c.1183_1185del	XP_006716995.1:p.Glu395del
XM_011518140.1:c.1387_1389del	XP_011516442.1:p.Glu463del
XM_011518141.1:c.1321_1323del	XP_011516443.1:p.Glu441del
XM_011518142.1:c.1225_1227del	XP_011516444.1:p.Glu409del
XM_011518143.1:c.1219_1221del	XP_011516445.1:p.Glu407del
XM_011518145.1:c.1078_1080del	XP_011516447.1:p.Glu360del
XM_011518147.1:c.406_408del	XP_011516449.1:p.Glu136del
XR_929703.1:n.1710_1712del
NM_001353193.1:c.1534_1536del	NP_001340122.1:p.Glu512del
NM_001353194.1:c.1306_1308del	NP_001340123.1:p.Glu436del
NM_001353195.1:c.1117_1119del	NP_001340124.1:p.Glu373del
NM_001353196.1:c.1378_1380del	NP_001340125.1:p.Glu460del
NM_001353197.1:c.1372_1374del	NP_001340126.1:p.Glu458del
NM_001353198.1:c.1372_1374del	NP_001340127.1:p.Glu458del
NM_001353199.1:c.1183_1185del	NP_001340128.1:p.Glu395del
NM_001353200.1:c.1012_1014del	NP_001340129.1:p.Glu338del
NR_148391.1:n.1518_1520del
NR_148392.1:n.1736_1738del
NR_148393.1:n.1657_1659del
NR_148394.1:n.1411_1413del
NR_148395.1:n.1809_1811del
NR_148396.1:n.1443_1445del
NR_148397.1:n.1568_1570del
NR_148398.1:n.1523_1525del
NR_148399.1:n.2049_2051del
NR_148400.1:n.1648_1650del
XM_005272162.3:c.337_339del	XP_005272219.1:p.Glu113del
XM_006716932.2:c.1183_1185del	XP_006716995.1:p.Glu395del
XM_011518140.2:c.1387_1389del	XP_011516442.1:p.Glu463del
XM_011518141.2:c.1321_1323del	XP_011516443.1:p.Glu441del
XM_011518142.2:c.1225_1227del	XP_011516444.1:p.Glu409del
XM_011518143.2:c.1219_1221del	XP_011516445.1:p.Glu407del
XM_011518145.2:c.1078_1080del	XP_011516447.1:p.Glu360del
XM_017014205.2:c.337_339del	XP_016869694.1:p.Glu113del
XM_024447380.1:c.337_339del	XP_024303148.1:p.Glu113del
XM_024447381.1:c.643_645del	XP_024303149.1:p.Glu215del
XM_024447382.1:c.337_339del	XP_024303150.1:p.Glu113del
XR_001746160.2:n.1638_1640del
XR_001746162.2:n.1843_1845del
XR_001746164.1:n.1560_1562del
XR_001746166.2:n.1855_1857del
NM_001077365.2:c.1468_1470del MANE Select	NP_001070833.1:p.Glu490del
NM_001077366.2:c.1306_1308del	NP_001070834.1:p.Glu436del
NM_001136113.2:c.1468_1470del	NP_001129585.1:p.Glu490del
NM_001136114.2:c.1117_1119del	NP_001129586.1:p.Glu373del
NM_001353193.2:c.1534_1536del	NP_001340122.2:p.Glu512del
NM_001353194.2:c.1306_1308del	NP_001340123.1:p.Glu436del
NM_001353195.2:c.1117_1119del	NP_001340124.1:p.Glu373del
NM_001353196.2:c.1378_1380del	NP_001340125.1:p.Glu460del
NM_001353197.2:c.1372_1374del	NP_001340126.2:p.Glu458del
NM_001353198.2:c.1372_1374del	NP_001340127.2:p.Glu458del
NM_001353199.2:c.1183_1185del	NP_001340128.2:p.Glu395del
NM_001353200.2:c.1012_1014del	NP_001340129.1:p.Glu338del
NM_001374689.1:c.1456_1458del	NP_001361618.1:p.Glu486del
NM_001374690.1:c.1365+402_1365+404del	NP_001361619.1:n.1365+402_1365+404del
NM_001374691.1:c.1117_1119del	NP_001361620.1:p.Glu373del
NM_001374692.1:c.1117_1119del	NP_001361621.1:p.Glu373del
NM_001374693.1:c.1117_1119del	NP_001361622.1:p.Glu373del
NM_001374695.1:c.1078_1080del	NP_001361624.1:p.Glu360del
NM_007171.4:c.1534_1536del	NP_009102.4:p.Glu512del
NR_148391.2:n.1502_1504del
NR_148392.2:n.1720_1722del
NR_148393.2:n.1641_1643del
NR_148394.2:n.1395_1397del
NR_148395.2:n.1793_1795del
NR_148396.2:n.1427_1429del
NR_148397.2:n.1552_1554del
NR_148398.2:n.1507_1509del
NR_148399.2:n.2033_2035del
NR_148400.2:n.1632_1634del