Canonical Allele Identifier: CA2625844094

Gene: POMT2

Linked Data

• gnomAD v4: 14-77286911-G-GAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286911_77286912insAACA , CM000676.2:g.77286911_77286912insAACA	GRCh38
NC_000014.8:g.77753254_77753255insAACA , CM000676.1:g.77753254_77753255insAACA	GRCh37
NC_000014.7:g.76823007_76823008insAACA	NCBI36
NG_008897.1:g.38971_38972insTGTT , LRG_844:g.38971_38972insTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.795-90_795-89insTGTT	ENSP00000451967.2:n.795-90_795-89insTGTT
ENST00000682247.1:c.1254-90_1254-89insTGTT	ENSP00000507213.1:n.1254-90_1254-89insTGTT
ENST00000682382.1:c.826-90_826-89insTGTT
ENST00000682395.1:n.1342_1343insTGTT
ENST00000682459.1:n.957-90_957-89insTGTT
ENST00000682467.1:c.1254-90_1254-89insTGTT	ENSP00000508062.1:n.1254-90_1254-89insTGTT
ENST00000682706.1:n.30+71_30+72insTGTT
ENST00000682795.1:c.1254-90_1254-89insTGTT	ENSP00000507574.1:n.1254-90_1254-89insTGTT
ENST00000682895.1:n.970-90_970-89insTGTT
ENST00000682955.1:n.542-90_542-89insTGTT
ENST00000683188.1:c.1139_1140insTGTT
ENST00000683328.1:c.247-90_247-89insTGTT	ENSP00000508096.1:n.247-90_247-89insTGTT
ENST00000683380.1:n.918-90_918-89insTGTT
ENST00000683828.1:c.963-90_963-89insTGTT
ENST00000684259.1:n.1105-90_1105-89insTGTT
ENST00000684549.1:n.805-90_805-89insTGTT
ENST00000261534.9:c.1254-90_1254-89insTGTT MANE Select	ENSP00000261534.4:n.1254-90_1254-89insTGTT
ENST00000261534.8:c.1254-90_1254-89insTGTT	ENSP00000261534.4:n.1254-90_1254-89insTGTT
ENST00000452340.7:n.1277-90_1277-89insTGTT
ENST00000553880.5:n.125-90_125-89insTGTT
ENST00000554767.5:n.2040-90_2040-89insTGTT
ENST00000554884.5:n.246-90_246-89insTGTT
ENST00000556404.1:n.298_299insTGTT
ENST00000556851.1:n.290-90_290-89insTGTT
ENST00000557675.5:n.344-90_344-89insTGTT
NM_013382.5:c.1254-90_1254-89insTGTT , LRG_844t1:c.1254-90_1254-89insTGTT	NP_037514.2:n.1254-90_1254-89insTGTT
XM_011536675.1:c.1254-90_1254-89insTGTT	XP_011534977.1:n.1254-90_1254-89insTGTT
XM_011536676.1:c.921-90_921-89insTGTT	XP_011534978.1:n.921-90_921-89insTGTT
XM_011536677.1:c.795-90_795-89insTGTT	XP_011534979.1:n.795-90_795-89insTGTT
XM_011536678.1:c.1254-90_1254-89insTGTT	XP_011534980.1:n.1254-90_1254-89insTGTT
XM_011536679.1:c.348-90_348-89insTGTT	XP_011534981.1:n.348-90_348-89insTGTT
XM_011536680.1:c.*317_*318insTGTT	XP_011534982.1:n.*317_*318insTGTT
XR_943416.1:n.1457-90_1457-89insTGTT
XM_011536675.2:c.1254-90_1254-89insTGTT	XP_011534977.1:n.1254-90_1254-89insTGTT
XM_011536676.2:c.921-90_921-89insTGTT	XP_011534978.1:n.921-90_921-89insTGTT
XM_011536677.3:c.795-90_795-89insTGTT	XP_011534979.1:n.795-90_795-89insTGTT
XR_001750279.1:n.1454-90_1454-89insTGTT
XR_001750282.1:n.1817_1818insTGTT
XR_943416.3:n.1455-90_1455-89insTGTT
NM_013382.6:c.1254-90_1254-89insTGTT	NP_037514.2:n.1254-90_1254-89insTGTT
NM_013382.7:c.1254-90_1254-89insTGTT MANE Select	NP_037514.2:n.1254-90_1254-89insTGTT