Canonical Allele Identifier: CA2672748574

Gene: AGA

Linked Data

• gnomAD v4: 4-177442267-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442270dup , CM000666.2:g.177442270dup	GRCh38
NC_000004.11:g.178363424dup , CM000666.1:g.178363424dup	GRCh37
NC_000004.10:g.178600418dup	NCBI36
NG_011845.2:g.5236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.108dup MANE Select	ENSP00000264595.2:p.Lys37Ter
ENST00000264595.6:c.108dup	ENSP00000264595.2:p.Lys37Ter
ENST00000506853.5:n.142dup
ENST00000510955.5:n.142dup
ENST00000511231.1:n.142dup
NM_000027.3:c.108dup	NP_000018.2:p.Lys37Ter
NM_001171988.1:c.108dup	NP_001165459.1:p.Lys37Ter
NR_033655.1:n.236dup
XM_006714123.2:c.108dup	XP_006714186.1:p.Lys37Ter
XR_001741155.2:n.202dup
NM_000027.4:c.108dup MANE Select	NP_000018.2:p.Lys37Ter
NM_001171988.2:c.108dup	NP_001165459.1:p.Lys37Ter
NR_033655.2:n.170dup