Canonical Allele Identifier: CA2625844271

Gene: POMT2

Linked Data

• gnomAD v4: 14-77287057-TGCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77287058_77287061del , CM000676.2:g.77287058_77287061del	GRCh38
NC_000014.8:g.77753401_77753404del , CM000676.1:g.77753401_77753404del	GRCh37
NC_000014.7:g.76823154_76823157del	NCBI36
NG_008897.1:g.38822_38825del , LRG_844:g.38822_38825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.795-239_795-236del	ENSP00000451967.2:n.795-239_795-236del
ENST00000682247.1:c.1254-239_1254-236del	ENSP00000507213.1:n.1254-239_1254-236del
ENST00000682382.1:c.826-239_826-236del
ENST00000682395.1:n.1193_1196del
ENST00000682459.1:n.956+172_956+175del
ENST00000682467.1:c.1254-239_1254-236del	ENSP00000508062.1:n.1254-239_1254-236del
ENST00000682795.1:c.1254-239_1254-236del	ENSP00000507574.1:n.1254-239_1254-236del
ENST00000682895.1:n.970-239_970-236del
ENST00000682955.1:n.542-239_542-236del
ENST00000683188.1:c.990_993del
ENST00000683328.1:c.247-239_247-236del	ENSP00000508096.1:n.247-239_247-236del
ENST00000683380.1:n.918-239_918-236del
ENST00000683828.1:c.963-239_963-236del
ENST00000684259.1:n.1105-239_1105-236del
ENST00000684549.1:n.805-239_805-236del
ENST00000261534.9:c.1254-239_1254-236del MANE Select	ENSP00000261534.4:n.1254-239_1254-236del
ENST00000261534.8:c.1254-239_1254-236del	ENSP00000261534.4:n.1254-239_1254-236del
ENST00000452340.7:n.1277-239_1277-236del
ENST00000553880.5:n.125-239_125-236del
ENST00000554767.5:n.2040-239_2040-236del
ENST00000554884.5:n.246-239_246-236del
ENST00000556404.1:n.149_152del
ENST00000556851.1:n.289+172_289+175del
ENST00000557675.5:n.344-239_344-236del
NM_013382.5:c.1254-239_1254-236del , LRG_844t1:c.1254-239_1254-236del	NP_037514.2:n.1254-239_1254-236del
XM_011536675.1:c.1254-239_1254-236del	XP_011534977.1:n.1254-239_1254-236del
XM_011536676.1:c.921-239_921-236del	XP_011534978.1:n.921-239_921-236del
XM_011536677.1:c.795-239_795-236del	XP_011534979.1:n.795-239_795-236del
XM_011536678.1:c.1254-239_1254-236del	XP_011534980.1:n.1254-239_1254-236del
XM_011536679.1:c.348-239_348-236del	XP_011534981.1:n.348-239_348-236del
XM_011536680.1:c.*168_*171del	XP_011534982.1:n.*168_*171del
XR_943416.1:n.1457-239_1457-236del
XM_011536675.2:c.1254-239_1254-236del	XP_011534977.1:n.1254-239_1254-236del
XM_011536676.2:c.921-239_921-236del	XP_011534978.1:n.921-239_921-236del
XM_011536677.3:c.795-239_795-236del	XP_011534979.1:n.795-239_795-236del
XR_001750279.1:n.1454-239_1454-236del
XR_001750282.1:n.1668_1671del
XR_943416.3:n.1455-239_1455-236del
NM_013382.6:c.1254-239_1254-236del	NP_037514.2:n.1254-239_1254-236del
NM_013382.7:c.1254-239_1254-236del MANE Select	NP_037514.2:n.1254-239_1254-236del