Canonical Allele Identifier: CA791500026

Gene: AGA

Linked Data

• dbSNP Id: rs1407579946
• gnomAD v3: 4-177437328-GT-G
• gnomAD v4: 4-177437328-GT-G
• MyVariant Identifiers: chr4:g.178358483del (hg19) ; chr4:g.177437329del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437329del , CM000666.2:g.177437329del	GRCh38
NC_000004.11:g.178358483del , CM000666.1:g.178358483del	GRCh37
NC_000004.10:g.178595477del	NCBI36
NG_011845.2:g.10175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+76del MANE Select	ENSP00000264595.2:n.622+76del
ENST00000264595.6:c.622+76del	ENSP00000264595.2:n.622+76del
ENST00000502310.5:c.277+76del	ENSP00000423798.1:n.277+76del
ENST00000506853.5:n.656+76del
ENST00000510635.1:c.318+76del
ENST00000510955.5:n.619del
NM_000027.3:c.622+76del	NP_000018.2:n.622+76del
NM_001171988.1:c.622+76del	NP_001165459.1:n.622+76del
NR_033655.1:n.750+76del
XM_006714123.2:c.622+76del	XP_006714186.1:n.622+76del
XR_001741155.2:n.716+76del
NM_000027.4:c.622+76del MANE Select	NP_000018.2:n.622+76del
NM_001171988.2:c.622+76del	NP_001165459.1:n.622+76del
NR_033655.2:n.684+76del