Canonical Allele Identifier: CA2672747627

Gene: AGA

Linked Data

• ClinVar Variation Id: 2874615
• ClinVar RCV Id: RCV003597720
• gnomAD v4: 4-177438868-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438874del , CM000666.2:g.177438874del	GRCh38
NC_000004.11:g.178360028del , CM000666.1:g.178360028del	GRCh37
NC_000004.10:g.178597022del	NCBI36
NG_011845.2:g.8635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.395-12del MANE Select	ENSP00000264595.2:n.395-12del
ENST00000264595.6:c.395-12del	ENSP00000264595.2:n.395-12del
ENST00000502310.5:c.50-12del	ENSP00000423798.1:n.50-12del
ENST00000506853.5:n.429-12del
ENST00000510635.1:c.91-12del
ENST00000510955.5:n.316-12del
NM_000027.3:c.395-12del	NP_000018.2:n.395-12del
NM_001171988.1:c.395-12del	NP_001165459.1:n.395-12del
NR_033655.1:n.523-12del
XM_006714123.2:c.395-12del	XP_006714186.1:n.395-12del
XR_001741155.2:n.489-12del
NM_000027.4:c.395-12del MANE Select	NP_000018.2:n.395-12del
NM_001171988.2:c.395-12del	NP_001165459.1:n.395-12del
NR_033655.2:n.457-12del