Canonical Allele Identifier: CA2672747492

Gene: AGA

Linked Data

• gnomAD v4: 4-177438761-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438763del , CM000666.2:g.177438763del	GRCh38
NC_000004.11:g.178359917del , CM000666.1:g.178359917del	GRCh37
NC_000004.10:g.178596911del	NCBI36
NG_011845.2:g.8742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.490del MANE Select	ENSP00000264595.2:p.Gln164SerfsTer25
ENST00000264595.6:c.490del	ENSP00000264595.2:p.Gln164SerfsTer25
ENST00000502310.5:c.145del	ENSP00000423798.1:p.Gln49SerfsTer25
ENST00000506853.5:n.524del
ENST00000510635.1:c.186del
ENST00000510955.5:n.411del
NM_000027.3:c.490del	NP_000018.2:p.Gln164SerfsTer25
NM_001171988.1:c.490del	NP_001165459.1:p.Gln164SerfsTer25
NR_033655.1:n.618del
XM_006714123.2:c.490del	XP_006714186.1:p.Gln164SerfsTer25
XR_001741155.2:n.584del
NM_000027.4:c.490del MANE Select	NP_000018.2:p.Gln164SerfsTer25
NM_001171988.2:c.490del	NP_001165459.1:p.Gln164SerfsTer25
NR_033655.2:n.552del