Canonical Allele Identifier: CA2575587526

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278451-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278455del , CM000676.2:g.77278455del	GRCh38
NC_000014.8:g.77744798del , CM000676.1:g.77744798del	GRCh37
NC_000014.7:g.76814551del	NCBI36
NG_008897.1:g.47431del , LRG_844:g.47431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1014del
ENST00000556394.2:c.1630del	ENSP00000451967.2:p.Leu544TrpfsTer11
ENST00000682247.1:c.2078del	ENSP00000507213.1:p.Pro693LeufsTer?
ENST00000682395.1:n.2553del
ENST00000682459.1:n.1792del
ENST00000682467.1:c.1948del	ENSP00000508062.1:p.Leu650TrpfsTer11
ENST00000682795.1:c.2236del	ENSP00000507574.1:p.Leu746TrpfsTer11
ENST00000682895.1:n.1805del
ENST00000682955.1:n.1663del
ENST00000683188.1:c.2350del
ENST00000683380.1:n.1753del
ENST00000683907.1:c.354del	ENSP00000507754.1:n.354del
ENST00000684259.1:n.3856del
ENST00000684538.1:n.1468del
ENST00000684549.1:n.1640del
ENST00000261534.9:c.2089del MANE Select	ENSP00000261534.4:p.Leu697TrpfsTer11
ENST00000261534.8:c.2089del	ENSP00000261534.4:p.Leu697TrpfsTer11
ENST00000452340.7:n.3065del
ENST00000554767.5:n.2875del
ENST00000555710.1:c.450del	ENSP00000451730.1:n.450del
ENST00000556394.1:c.144del
ENST00000556446.1:n.390del
ENST00000602717.5:c.304del	ENSP00000487704.1:p.Leu102TrpfsTer11
NM_013382.5:c.2089del , LRG_844t1:c.2089del	NP_037514.2:p.Leu697TrpfsTer11
XM_011536675.1:c.2278del	XP_011534977.1:p.Leu760TrpfsTer11
XM_011536676.1:c.1945del	XP_011534978.1:p.Leu649TrpfsTer11
XM_011536677.1:c.1819del	XP_011534979.1:p.Leu607TrpfsTer11
XM_011536679.1:c.1372del	XP_011534981.1:p.Leu458TrpfsTer11
XR_943416.1:n.2342del
XM_011536675.2:c.2278del	XP_011534977.1:p.Leu760TrpfsTer11
XM_011536676.2:c.1945del	XP_011534978.1:p.Leu649TrpfsTer11
XM_011536677.3:c.1819del	XP_011534979.1:p.Leu607TrpfsTer11
XR_001750279.1:n.2375del
XR_001750282.1:n.3028del
XR_943416.3:n.2340del
NM_013382.6:c.2089del	NP_037514.2:p.Leu697TrpfsTer11
NM_013382.7:c.2089del MANE Select	NP_037514.2:p.Leu697TrpfsTer11