Canonical Allele Identifier: CA2578238493

Gene: AGA

Linked Data

• gnomAD v4: 4-177437612-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437619del , CM000666.2:g.177437619del	GRCh38
NC_000004.11:g.178358773del , CM000666.1:g.178358773del	GRCh37
NC_000004.10:g.178595767del	NCBI36
NG_011845.2:g.9891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-94del MANE Select	ENSP00000264595.2:n.508-94del
ENST00000264595.6:c.508-94del	ENSP00000264595.2:n.508-94del
ENST00000502310.5:c.163-94del	ENSP00000423798.1:n.163-94del
ENST00000506853.5:n.542-94del
ENST00000510635.1:c.204-94del
ENST00000510955.5:n.429-94del
NM_000027.3:c.508-94del	NP_000018.2:n.508-94del
NM_001171988.1:c.508-94del	NP_001165459.1:n.508-94del
NR_033655.1:n.636-94del
XM_006714123.2:c.508-94del	XP_006714186.1:n.508-94del
XR_001741155.2:n.602-94del
NM_000027.4:c.508-94del MANE Select	NP_000018.2:n.508-94del
NM_001171988.2:c.508-94del	NP_001165459.1:n.508-94del
NR_033655.2:n.570-94del