Canonical Allele Identifier: CA791501753

Gene: AGA

Linked Data

• dbSNP Id: rs1380856120
• gnomAD v3: 4-177439755-C-CT
• gnomAD v4: 4-177439755-C-CT
• MyVariant Identifiers: chr4:g.178360909_178360910insT (hg19) ; chr4:g.177439755_177439756insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439759dup , CM000666.2:g.177439759dup	GRCh38
NC_000004.11:g.178360913dup , CM000666.1:g.178360913dup	GRCh37
NC_000004.10:g.178597907dup	NCBI36
NG_011845.2:g.7748dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-68dup MANE Select	ENSP00000264595.2:n.282-68dup
ENST00000264595.6:c.282-68dup	ENSP00000264595.2:n.282-68dup
ENST00000506853.5:n.316-68dup
ENST00000510955.5:n.315+517dup
NM_000027.3:c.282-68dup	NP_000018.2:n.282-68dup
NM_001171988.1:c.282-68dup	NP_001165459.1:n.282-68dup
NR_033655.1:n.410-68dup
XM_006714123.2:c.282-68dup	XP_006714186.1:n.282-68dup
XR_001741155.2:n.376-68dup
NM_000027.4:c.282-68dup MANE Select	NP_000018.2:n.282-68dup
NM_001171988.2:c.282-68dup	NP_001165459.1:n.282-68dup
NR_033655.2:n.344-68dup