Canonical Allele Identifier: CA2578238473

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437489del , CM000666.2:g.177437489del	GRCh38
NC_000004.11:g.178358643del , CM000666.1:g.178358643del	GRCh37
NC_000004.10:g.178595637del	NCBI36
NG_011845.2:g.10016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.539del MANE Select	ENSP00000264595.2:p.Gly180AspfsTer9
ENST00000264595.6:c.539del	ENSP00000264595.2:p.Gly180AspfsTer9
ENST00000502310.5:c.194del	ENSP00000423798.1:p.Gly65AspfsTer9
ENST00000506853.5:n.573del
ENST00000510635.1:c.235del
ENST00000510955.5:n.460del
NM_000027.3:c.539del	NP_000018.2:p.Gly180AspfsTer9
NM_001171988.1:c.539del	NP_001165459.1:p.Gly180AspfsTer9
NR_033655.1:n.667del
XM_006714123.2:c.539del	XP_006714186.1:p.Gly180AspfsTer9
XR_001741155.2:n.633del
NM_000027.4:c.539del MANE Select	NP_000018.2:p.Gly180AspfsTer9
NM_001171988.2:c.539del	NP_001165459.1:p.Gly180AspfsTer9
NR_033655.2:n.601del