Canonical Allele Identifier: CA2625847632

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306254-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306256_77306257del , CM000676.2:g.77306256_77306257del	GRCh38
NC_000014.8:g.77772599_77772600del , CM000676.1:g.77772599_77772600del	GRCh37
NC_000014.7:g.76842352_76842353del	NCBI36
NG_008897.1:g.19627_19628del , LRG_844:g.19627_19628del

Transcript Alleles

HGVS	Amino-acid change
ENST00000555675.6:n.248_249del
ENST00000556394.2:c.249-1456_249-1455del	ENSP00000451967.2:n.249-1456_249-1455del
ENST00000556880.6:n.452_453del
ENST00000682247.1:c.438+81_438+82del	ENSP00000507213.1:n.438+81_438+82del
ENST00000682382.1:c.386+81_386+82del
ENST00000682395.1:n.167+81_167+82del
ENST00000682459.1:n.102+146_102+147del
ENST00000682467.1:c.438+81_438+82del	ENSP00000508062.1:n.438+81_438+82del
ENST00000682795.1:c.438+81_438+82del	ENSP00000507574.1:n.438+81_438+82del
ENST00000682895.1:n.154+81_154+82del
ENST00000682955.1:n.102+146_102+147del
ENST00000683188.1:c.233+81_233+82del
ENST00000683380.1:n.102+146_102+147del
ENST00000683828.1:c.307+81_307+82del
ENST00000684102.1:n.265_266del
ENST00000684259.1:n.289+81_289+82del
ENST00000684479.1:n.105+81_105+82del
ENST00000684549.1:n.248_249del
ENST00000684600.1:c.252+81_252+82del
ENST00000684670.1:n.105+81_105+82del
ENST00000261534.9:c.438+81_438+82del MANE Select	ENSP00000261534.4:n.438+81_438+82del
ENST00000261534.8:c.438+81_438+82del	ENSP00000261534.4:n.438+81_438+82del
ENST00000452340.7:n.461+81_461+82del
ENST00000553863.5:n.102+146_102+147del
ENST00000554948.1:c.165+81_165+82del	ENSP00000452060.1:n.165+81_165+82del
ENST00000555675.5:n.154+81_154+82del
ENST00000555788.5:n.353_354del
ENST00000556326.5:c.*104+81_*104+82del	ENSP00000450630.1:n.*104+81_*104+82del
ENST00000556880.5:n.452_453del
ENST00000557525.1:n.528+81_528+82del
NM_013382.5:c.438+81_438+82del , LRG_844t1:c.438+81_438+82del	NP_037514.2:n.438+81_438+82del
XM_011536675.1:c.438+81_438+82del	XP_011534977.1:n.438+81_438+82del
XM_011536676.1:c.105+81_105+82del	XP_011534978.1:n.105+81_105+82del
XM_011536677.1:c.438+81_438+82del	XP_011534979.1:n.438+81_438+82del
XM_011536678.1:c.438+81_438+82del	XP_011534980.1:n.438+81_438+82del
XM_011536679.1:c.-210_-209del	XP_011534981.1:n.-210_-209del
XM_011536680.1:c.438+81_438+82del	XP_011534982.1:n.438+81_438+82del
XR_943416.1:n.641+81_641+82del
XM_011536675.2:c.438+81_438+82del	XP_011534977.1:n.438+81_438+82del
XM_011536676.2:c.105+81_105+82del	XP_011534978.1:n.105+81_105+82del
XM_011536677.3:c.438+81_438+82del	XP_011534979.1:n.438+81_438+82del
XR_001750279.1:n.638+81_638+82del
XR_001750282.1:n.642+81_642+82del
XR_943416.3:n.639+81_639+82del
NM_013382.6:c.438+81_438+82del	NP_037514.2:n.438+81_438+82del
NM_013382.7:c.438+81_438+82del MANE Select	NP_037514.2:n.438+81_438+82del