Canonical Allele Identifier: CA590946827

Gene: POMT1

Linked Data

• dbSNP Id: rs1564378454
• gnomAD v2: 9-134394278-GAGA-G
• MyVariant Identifiers: chr9:g.134394279_134394281del (hg19) ; chr9:g.131518892_131518894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518894_131518896del , CM000671.2:g.131518894_131518896del	GRCh38
NC_000009.11:g.134394281_134394283del , CM000671.1:g.134394281_134394283del	GRCh37
NC_000009.10:g.133384102_133384104del	NCBI36
NG_008896.1:g.20993_20995del
NG_008896.2:g.20993_20995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1261_1263del	ENSP00000343034.7:p.Lys421del
ENST00000404875.7:n.1963_1965del
ENST00000423007.6:c.1480_1482del	ENSP00000404119.2:p.Lys494del
ENST00000677295.2:c.*1767_*1769del	ENSP00000504346.2:n.*1767_*1769del
ENST00000678264.2:c.*1606_*1608del	ENSP00000503157.2:n.*1606_*1608del
ENST00000682070.1:n.1888_1890del
ENST00000682539.1:c.361_363del
ENST00000682813.1:n.1827_1829del
ENST00000683392.1:n.4170_4172del
ENST00000683712.1:n.1828_1830del
ENST00000683900.1:n.3323_3325del
ENST00000684062.1:n.2089_2091del
ENST00000684579.1:n.3269_3271del
ENST00000684679.1:n.650_652del
ENST00000341012.12:c.1261_1263del	ENSP00000343034.7:p.Lys421del
ENST00000372220.5:c.292_294del	ENSP00000361294.5:p.Lys98del
ENST00000372228.9:c.1489_1491del	ENSP00000361302.3:p.Lys497del
ENST00000402686.8:c.1423_1425del MANE Select	ENSP00000385797.4:p.Lys475del
ENST00000676640.1:c.1423_1425del	ENSP00000503281.1:p.Lys475del
ENST00000676803.1:c.598_600del	ENSP00000503093.1:p.Lys200del
ENST00000676835.1:c.*638_*640del	ENSP00000502911.1:n.*638_*640del
ENST00000677029.1:c.967_969del	ENSP00000502936.1:p.Lys323del
ENST00000677099.1:c.*1133_*1135del	ENSP00000504553.1:n.*1133_*1135del
ENST00000677216.1:c.1072_1074del	ENSP00000503772.1:p.Lys358del
ENST00000677221.1:n.448_450del
ENST00000677295.1:c.*800_*802del	ENSP00000504346.1:n.*800_*802del
ENST00000677444.1:c.1368_1370del
ENST00000677586.1:n.904_906del
ENST00000677626.1:c.1072_1074del	ENSP00000503552.1:p.Lys358del
ENST00000677677.1:n.1383_1385del
ENST00000677853.1:c.*431_*433del	ENSP00000503488.1:n.*431_*433del
ENST00000678202.1:n.582_584del
ENST00000678264.1:c.*800_*802del	ENSP00000503157.1:n.*800_*802del
ENST00000678303.1:c.1333_1335del	ENSP00000503696.1:p.Lys445del
ENST00000678366.1:c.*1672_*1674del	ENSP00000504353.1:n.*1672_*1674del
ENST00000678546.1:c.*1368_*1370del	ENSP00000503062.1:n.*1368_*1370del
ENST00000678548.1:c.*1495_*1497del	ENSP00000503934.1:n.*1495_*1497del
ENST00000678626.1:n.1259_1261del
ENST00000678733.1:c.504_506del
ENST00000678739.1:c.*1749_*1751del	ENSP00000503806.1:n.*1749_*1751del
ENST00000678833.1:c.*870_*872del	ENSP00000503893.1:n.*870_*872del
ENST00000679023.1:c.1261_1263del	ENSP00000503718.1:p.Lys421del
ENST00000679076.1:c.1042_1044del
ENST00000679111.1:c.*179_*181del	ENSP00000504257.1:n.*179_*181del
ENST00000679189.1:c.1072_1074del	ENSP00000503356.1:p.Lys358del
ENST00000341012.11:c.1261_1263del	ENSP00000343034.7:p.Lys421del
ENST00000372220.4:c.286_288del	ENSP00000361294.4:p.Lys96del
ENST00000372228.7:c.1489_1491del	ENSP00000361302.3:p.Lys497del
ENST00000402686.7:c.1423_1425del	ENSP00000385797.3:p.Lys475del
ENST00000404875.6:c.1072_1074del	ENSP00000384531.2:p.Lys358del
ENST00000423007.5:c.1423_1425del	ENSP00000404119.1:p.Lys475del
ENST00000467848.1:n.127_129del
ENST00000485278.5:n.1978_1980del
NM_001077365.1:c.1423_1425del	NP_001070833.1:p.Lys475del
NM_001077366.1:c.1261_1263del	NP_001070834.1:p.Lys421del
NM_001136113.1:c.1423_1425del	NP_001129585.1:p.Lys475del
NM_001136114.1:c.1072_1074del	NP_001129586.1:p.Lys358del
NM_007171.3:c.1489_1491del	NP_009102.3:p.Lys497del
XM_005272156.1:c.1489_1491del	XP_005272213.1:p.Lys497del
XM_005272158.1:c.1327_1329del	XP_005272215.1:p.Lys443del
XM_005272159.1:c.1138_1140del	XP_005272216.1:p.Lys380del
XM_005272162.1:c.292_294del	XP_005272219.1:p.Lys98del
XM_006716932.1:c.1138_1140del	XP_006716995.1:p.Lys380del
XM_011518140.1:c.1342_1344del	XP_011516442.1:p.Lys448del
XM_011518141.1:c.1276_1278del	XP_011516443.1:p.Lys426del
XM_011518142.1:c.1180_1182del	XP_011516444.1:p.Lys394del
XM_011518143.1:c.1174_1176del	XP_011516445.1:p.Lys392del
XM_011518145.1:c.1033_1035del	XP_011516447.1:p.Lys345del
XM_011518147.1:c.361_363del	XP_011516449.1:p.Lys121del
XR_929703.1:n.1665_1667del
NM_001353193.1:c.1489_1491del	NP_001340122.1:p.Lys497del
NM_001353194.1:c.1261_1263del	NP_001340123.1:p.Lys421del
NM_001353195.1:c.1072_1074del	NP_001340124.1:p.Lys358del
NM_001353196.1:c.1333_1335del	NP_001340125.1:p.Lys445del
NM_001353197.1:c.1327_1329del	NP_001340126.1:p.Lys443del
NM_001353198.1:c.1327_1329del	NP_001340127.1:p.Lys443del
NM_001353199.1:c.1138_1140del	NP_001340128.1:p.Lys380del
NM_001353200.1:c.967_969del	NP_001340129.1:p.Lys323del
NR_148391.1:n.1473_1475del
NR_148392.1:n.1691_1693del
NR_148393.1:n.1612_1614del
NR_148394.1:n.1366_1368del
NR_148395.1:n.1764_1766del
NR_148396.1:n.1398_1400del
NR_148397.1:n.1523_1525del
NR_148398.1:n.1478_1480del
NR_148399.1:n.2004_2006del
NR_148400.1:n.1603_1605del
XM_005272162.3:c.292_294del	XP_005272219.1:p.Lys98del
XM_006716932.2:c.1138_1140del	XP_006716995.1:p.Lys380del
XM_011518140.2:c.1342_1344del	XP_011516442.1:p.Lys448del
XM_011518141.2:c.1276_1278del	XP_011516443.1:p.Lys426del
XM_011518142.2:c.1180_1182del	XP_011516444.1:p.Lys394del
XM_011518143.2:c.1174_1176del	XP_011516445.1:p.Lys392del
XM_011518145.2:c.1033_1035del	XP_011516447.1:p.Lys345del
XM_017014205.2:c.292_294del	XP_016869694.1:p.Lys98del
XM_024447380.1:c.292_294del	XP_024303148.1:p.Lys98del
XM_024447381.1:c.598_600del	XP_024303149.1:p.Lys200del
XM_024447382.1:c.292_294del	XP_024303150.1:p.Lys98del
XR_001746160.2:n.1593_1595del
XR_001746162.2:n.1798_1800del
XR_001746164.1:n.1515_1517del
XR_001746166.2:n.1810_1812del
NM_001077365.2:c.1423_1425del MANE Select	NP_001070833.1:p.Lys475del
NM_001077366.2:c.1261_1263del	NP_001070834.1:p.Lys421del
NM_001136113.2:c.1423_1425del	NP_001129585.1:p.Lys475del
NM_001136114.2:c.1072_1074del	NP_001129586.1:p.Lys358del
NM_001353193.2:c.1489_1491del	NP_001340122.2:p.Lys497del
NM_001353194.2:c.1261_1263del	NP_001340123.1:p.Lys421del
NM_001353195.2:c.1072_1074del	NP_001340124.1:p.Lys358del
NM_001353196.2:c.1333_1335del	NP_001340125.1:p.Lys445del
NM_001353197.2:c.1327_1329del	NP_001340126.2:p.Lys443del
NM_001353198.2:c.1327_1329del	NP_001340127.2:p.Lys443del
NM_001353199.2:c.1138_1140del	NP_001340128.2:p.Lys380del
NM_001353200.2:c.967_969del	NP_001340129.1:p.Lys323del
NM_001374689.1:c.1411_1413del	NP_001361618.1:p.Lys471del
NM_001374690.1:c.1365+357_1365+359del	NP_001361619.1:n.1365+357_1365+359del
NM_001374691.1:c.1072_1074del	NP_001361620.1:p.Lys358del
NM_001374692.1:c.1072_1074del	NP_001361621.1:p.Lys358del
NM_001374693.1:c.1072_1074del	NP_001361622.1:p.Lys358del
NM_001374695.1:c.1033_1035del	NP_001361624.1:p.Lys345del
NM_007171.4:c.1489_1491del	NP_009102.4:p.Lys497del
NR_148391.2:n.1457_1459del
NR_148392.2:n.1675_1677del
NR_148393.2:n.1596_1598del
NR_148394.2:n.1350_1352del
NR_148395.2:n.1748_1750del
NR_148396.2:n.1382_1384del
NR_148397.2:n.1507_1509del
NR_148398.2:n.1462_1464del
NR_148399.2:n.1988_1990del
NR_148400.2:n.1587_1589del