Canonical Allele Identifier: CA1515642144
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736867745

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437610del , CM000666.2:g.177437610del GRCh38
NC_000004.11:g.178358764del , CM000666.1:g.178358764del GRCh37
NC_000004.10:g.178595758del NCBI36
NG_011845.2:g.9896del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-89del MANE Select ENSP00000264595.2:n.508-89del
ENST00000264595.6:c.508-89del ENSP00000264595.2:n.508-89del
ENST00000502310.5:c.163-89del ENSP00000423798.1:n.163-89del
ENST00000506853.5:n.542-89del
ENST00000510635.1:c.204-89del
ENST00000510955.5:n.429-89del
NM_000027.3:c.508-89del NP_000018.2:n.508-89del
NM_001171988.1:c.508-89del NP_001165459.1:n.508-89del
NR_033655.1:n.636-89del
XM_006714123.2:c.508-89del XP_006714186.1:n.508-89del
XR_001741155.2:n.602-89del
NM_000027.4:c.508-89del MANE Select NP_000018.2:n.508-89del
NM_001171988.2:c.508-89del NP_001165459.1:n.508-89del
NR_033655.2:n.570-89del