Canonical Allele Identifier: CA2625845834

Gene: POMT2

Linked Data

• gnomAD v4: 14-77301391-G-GAGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301391_77301392insAGCCA , CM000676.2:g.77301391_77301392insAGCCA	GRCh38
NC_000014.8:g.77767734_77767735insAGCCA , CM000676.1:g.77767734_77767735insAGCCA	GRCh37
NC_000014.7:g.76837487_76837488insAGCCA	NCBI36
NG_008897.1:g.24491_24492insTGGCT , LRG_844:g.24491_24492insTGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.110-143_110-142insTGGCT	ENSP00000508202.1:n.110-143_110-142insTGGCT
ENST00000556394.2:c.358-1831_358-1830insTGGCT	ENSP00000451967.2:n.358-1831_358-1830insTGGCT
ENST00000556880.6:n.681-143_681-142insTGGCT
ENST00000682247.1:c.657-143_657-142insTGGCT	ENSP00000507213.1:n.657-143_657-142insTGGCT
ENST00000682382.1:c.496-2621_496-2620insTGGCT
ENST00000682395.1:n.386-143_386-142insTGGCT
ENST00000682459.1:n.321-143_321-142insTGGCT
ENST00000682467.1:c.657-143_657-142insTGGCT	ENSP00000508062.1:n.657-143_657-142insTGGCT
ENST00000682795.1:c.657-143_657-142insTGGCT	ENSP00000507574.1:n.657-143_657-142insTGGCT
ENST00000682895.1:n.373-143_373-142insTGGCT
ENST00000682955.1:n.212-2621_212-2620insTGGCT
ENST00000683188.1:c.343-1831_343-1830insTGGCT
ENST00000683300.1:c.109+3300_109+3301insTGGCT	ENSP00000507630.1:n.109+3300_109+3301insTGGCT
ENST00000683328.1:c.109+3300_109+3301insTGGCT	ENSP00000508096.1:n.109+3300_109+3301insTGGCT
ENST00000683380.1:n.321-143_321-142insTGGCT
ENST00000683551.1:c.109+1443_109+1444insTGGCT
ENST00000683828.1:c.525+1443_525+1444insTGGCT
ENST00000684259.1:n.508-143_508-142insTGGCT
ENST00000684549.1:n.368-1831_368-1830insTGGCT
ENST00000261534.9:c.657-143_657-142insTGGCT MANE Select	ENSP00000261534.4:n.657-143_657-142insTGGCT
ENST00000261534.8:c.657-143_657-142insTGGCT	ENSP00000261534.4:n.657-143_657-142insTGGCT
ENST00000452340.7:n.680-143_680-142insTGGCT
ENST00000553863.5:n.321-143_321-142insTGGCT
ENST00000554948.1:c.384-143_384-142insTGGCT	ENSP00000452060.1:n.384-143_384-142insTGGCT
ENST00000555675.5:n.373-143_373-142insTGGCT
ENST00000556326.5:c.*323-143_*323-142insTGGCT	ENSP00000450630.1:n.*323-143_*323-142insTGGCT
ENST00000557289.1:c.56-1831_56-1830insTGGCT	ENSP00000451115.1:n.56-1831_56-1830insTGGCT
NM_013382.5:c.657-143_657-142insTGGCT , LRG_844t1:c.657-143_657-142insTGGCT	NP_037514.2:n.657-143_657-142insTGGCT
XM_011536675.1:c.657-143_657-142insTGGCT	XP_011534977.1:n.657-143_657-142insTGGCT
XM_011536676.1:c.324-143_324-142insTGGCT	XP_011534978.1:n.324-143_324-142insTGGCT
XM_011536677.1:c.547+3300_547+3301insTGGCT	XP_011534979.1:n.547+3300_547+3301insTGGCT
XM_011536678.1:c.657-143_657-142insTGGCT	XP_011534980.1:n.657-143_657-142insTGGCT
XM_011536679.1:c.-90-1831_-90-1830insTGGCT	XP_011534981.1:n.-90-1831_-90-1830insTGGCT
XM_011536680.1:c.657-143_657-142insTGGCT	XP_011534982.1:n.657-143_657-142insTGGCT
XR_943416.1:n.860-143_860-142insTGGCT
XM_011536675.2:c.657-143_657-142insTGGCT	XP_011534977.1:n.657-143_657-142insTGGCT
XM_011536676.2:c.324-143_324-142insTGGCT	XP_011534978.1:n.324-143_324-142insTGGCT
XM_011536677.3:c.547+3300_547+3301insTGGCT	XP_011534979.1:n.547+3300_547+3301insTGGCT
XR_001750279.1:n.857-143_857-142insTGGCT
XR_001750282.1:n.861-143_861-142insTGGCT
XR_943416.3:n.858-143_858-142insTGGCT
NM_013382.6:c.657-143_657-142insTGGCT	NP_037514.2:n.657-143_657-142insTGGCT
NM_013382.7:c.657-143_657-142insTGGCT MANE Select	NP_037514.2:n.657-143_657-142insTGGCT