Canonical Allele Identifier: CA1515644834
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439640_177439641delinsAT , CM000666.2:g.177439640_177439641delinsAT GRCh38
NC_000004.11:g.178360794_178360795delinsAT , CM000666.1:g.178360794_178360795delinsAT GRCh37
NC_000004.10:g.178597788_178597789delinsAT NCBI36
NG_011845.2:g.7863_7864delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.329_330delinsAT MANE Select ENSP00000264595.2:p.Asn110=
ENST00000264595.6:c.329_330delinsAT ENSP00000264595.2:p.Asn110=
ENST00000506853.5:n.363_364delinsAT
ENST00000510635.1:c.25_26delinsAT
ENST00000510955.5:n.315+632_315+633delinsAT
NM_000027.3:c.329_330delinsAT NP_000018.2:p.Asn110=
NM_001171988.1:c.329_330delinsAT NP_001165459.1:p.Asn110=
NR_033655.1:n.457_458delinsAT
XM_006714123.2:c.329_330delinsAT XP_006714186.1:p.Asn110=
XR_001741155.2:n.423_424delinsAT
NM_000027.4:c.329_330delinsAT MANE Select NP_000018.2:p.Asn110=
NM_001171988.2:c.329_330delinsAT NP_001165459.1:p.Asn110=
NR_033655.2:n.391_392delinsAT