Canonical Allele Identifier: CA791501743

Gene: AGA

Linked Data

• dbSNP Id: rs1313781549
• gnomAD v3: 4-177439739-T-TA
• gnomAD v4: 4-177439739-T-TA
• MyVariant Identifiers: chr4:g.178360893_178360894insA (hg19) ; chr4:g.177439739_177439740insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439740dup , CM000666.2:g.177439740dup	GRCh38
NC_000004.11:g.178360894dup , CM000666.1:g.178360894dup	GRCh37
NC_000004.10:g.178597888dup	NCBI36
NG_011845.2:g.7764dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-52dup MANE Select	ENSP00000264595.2:n.282-52dup
ENST00000264595.6:c.282-52dup	ENSP00000264595.2:n.282-52dup
ENST00000506853.5:n.316-52dup
ENST00000510955.5:n.315+533dup
NM_000027.3:c.282-52dup	NP_000018.2:n.282-52dup
NM_001171988.1:c.282-52dup	NP_001165459.1:n.282-52dup
NR_033655.1:n.410-52dup
XM_006714123.2:c.282-52dup	XP_006714186.1:n.282-52dup
XR_001741155.2:n.376-52dup
NM_000027.4:c.282-52dup MANE Select	NP_000018.2:n.282-52dup
NM_001171988.2:c.282-52dup	NP_001165459.1:n.282-52dup
NR_033655.2:n.344-52dup