Canonical Allele Identifier: CA2672748576

Gene: AGA

Linked Data

• gnomAD v4: 4-177442309-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442310dup , CM000666.2:g.177442310dup	GRCh38
NC_000004.11:g.178363464dup , CM000666.1:g.178363464dup	GRCh37
NC_000004.10:g.178600458dup	NCBI36
NG_011845.2:g.5194dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.66dup MANE Select	ENSP00000264595.2:p.Cys23LeufsTer15
ENST00000264595.6:c.66dup	ENSP00000264595.2:p.Cys23LeufsTer15
ENST00000506853.5:n.100dup
ENST00000510955.5:n.100dup
ENST00000511231.1:n.100dup
NM_000027.3:c.66dup	NP_000018.2:p.Cys23LeufsTer15
NM_001171988.1:c.66dup	NP_001165459.1:p.Cys23LeufsTer15
NR_033655.1:n.194dup
XM_006714123.2:c.66dup	XP_006714186.1:p.Cys23LeufsTer15
XR_001741155.2:n.160dup
NM_000027.4:c.66dup MANE Select	NP_000018.2:p.Cys23LeufsTer15
NM_001171988.2:c.66dup	NP_001165459.1:p.Cys23LeufsTer15
NR_033655.2:n.128dup