Canonical Allele Identifier: CA2672747828

Gene: AGA

Linked Data

• gnomAD v4: 4-177439602-GTTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439603_177439606del , CM000666.2:g.177439603_177439606del	GRCh38
NC_000004.11:g.178360757_178360760del , CM000666.1:g.178360757_178360760del	GRCh37
NC_000004.10:g.178597751_178597754del	NCBI36
NG_011845.2:g.7898_7901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.364_367del MANE Select	ENSP00000264595.2:p.Thr122HisfsTer5
ENST00000264595.6:c.364_367del	ENSP00000264595.2:p.Thr122HisfsTer5
ENST00000502310.5:c.19_22del	ENSP00000423798.1:p.Thr7HisfsTer5
ENST00000506853.5:n.398_401del
ENST00000510635.1:c.60_63del
ENST00000510955.5:n.315+667_315+670del
NM_000027.3:c.364_367del	NP_000018.2:p.Thr122HisfsTer5
NM_001171988.1:c.364_367del	NP_001165459.1:p.Thr122HisfsTer5
NR_033655.1:n.492_495del
XM_006714123.2:c.364_367del	XP_006714186.1:p.Thr122HisfsTer5
XR_001741155.2:n.458_461del
NM_000027.4:c.364_367del MANE Select	NP_000018.2:p.Thr122HisfsTer5
NM_001171988.2:c.364_367del	NP_001165459.1:p.Thr122HisfsTer5
NR_033655.2:n.426_429del