Canonical Allele Identifier: CA1515642143
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437607_177437608delinsGA , CM000666.2:g.177437607_177437608delinsGA GRCh38
NC_000004.11:g.178358761_178358762delinsGA , CM000666.1:g.178358761_178358762delinsGA GRCh37
NC_000004.10:g.178595755_178595756delinsGA NCBI36
NG_011845.2:g.9896_9897delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-89_508-88delinsTC MANE Select ENSP00000264595.2:n.508-89_508-88delinsTC
ENST00000264595.6:c.508-89_508-88delinsTC ENSP00000264595.2:n.508-89_508-88delinsTC
ENST00000502310.5:c.163-89_163-88delinsTC ENSP00000423798.1:n.163-89_163-88delinsTC
ENST00000506853.5:n.542-89_542-88delinsTC
ENST00000510635.1:c.204-89_204-88delinsTC
ENST00000510955.5:n.429-89_429-88delinsTC
NM_000027.3:c.508-89_508-88delinsTC NP_000018.2:n.508-89_508-88delinsTC
NM_001171988.1:c.508-89_508-88delinsTC NP_001165459.1:n.508-89_508-88delinsTC
NR_033655.1:n.636-89_636-88delinsTC
XM_006714123.2:c.508-89_508-88delinsTC XP_006714186.1:n.508-89_508-88delinsTC
XR_001741155.2:n.602-89_602-88delinsTC
NM_000027.4:c.508-89_508-88delinsTC MANE Select NP_000018.2:n.508-89_508-88delinsTC
NM_001171988.2:c.508-89_508-88delinsTC NP_001165459.1:n.508-89_508-88delinsTC
NR_033655.2:n.570-89_570-88delinsTC