Canonical Allele Identifier: CA2625845260

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278467-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278468del , CM000676.2:g.77278468del	GRCh38
NC_000014.8:g.77744811del , CM000676.1:g.77744811del	GRCh37
NC_000014.7:g.76814564del	NCBI36
NG_008897.1:g.47415del , LRG_844:g.47415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.998del
ENST00000556394.2:c.1614del	ENSP00000451967.2:p.Leu539TrpfsTer16
ENST00000682247.1:c.2062del	ENSP00000507213.1:p.Gly689AlafsTer?
ENST00000682395.1:n.2537del
ENST00000682459.1:n.1776del
ENST00000682467.1:c.1932del	ENSP00000508062.1:p.Leu645TrpfsTer16
ENST00000682795.1:c.2220del	ENSP00000507574.1:p.Leu741TrpfsTer16
ENST00000682895.1:n.1789del
ENST00000682955.1:n.1647del
ENST00000683188.1:c.2334del
ENST00000683380.1:n.1737del
ENST00000683907.1:c.338del	ENSP00000507754.1:n.338del
ENST00000684259.1:n.3840del
ENST00000684538.1:n.1452del
ENST00000684549.1:n.1624del
ENST00000261534.9:c.2073del MANE Select	ENSP00000261534.4:p.Leu692TrpfsTer16
ENST00000261534.8:c.2073del	ENSP00000261534.4:p.Leu692TrpfsTer16
ENST00000452340.7:n.3049del
ENST00000554767.5:n.2859del
ENST00000555710.1:c.434del	ENSP00000451730.1:n.434del
ENST00000556394.1:c.128del
ENST00000556446.1:n.374del
ENST00000602717.5:c.288del	ENSP00000487704.1:p.Leu97TrpfsTer16
NM_013382.5:c.2073del , LRG_844t1:c.2073del	NP_037514.2:p.Leu692TrpfsTer16
XM_011536675.1:c.2262del	XP_011534977.1:p.Leu755TrpfsTer16
XM_011536676.1:c.1929del	XP_011534978.1:p.Leu644TrpfsTer16
XM_011536677.1:c.1803del	XP_011534979.1:p.Leu602TrpfsTer16
XM_011536679.1:c.1356del	XP_011534981.1:p.Leu453TrpfsTer16
XR_943416.1:n.2326del
XM_011536675.2:c.2262del	XP_011534977.1:p.Leu755TrpfsTer16
XM_011536676.2:c.1929del	XP_011534978.1:p.Leu644TrpfsTer16
XM_011536677.3:c.1803del	XP_011534979.1:p.Leu602TrpfsTer16
XR_001750279.1:n.2359del
XR_001750282.1:n.3012del
XR_943416.3:n.2324del
NM_013382.6:c.2073del	NP_037514.2:p.Leu692TrpfsTer16
NM_013382.7:c.2073del MANE Select	NP_037514.2:p.Leu692TrpfsTer16