Canonical Allele Identifier: CA1515637349
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434323_177434328delinsTAAAAG , CM000666.2:g.177434323_177434328delinsTAAAAG GRCh38
NC_000004.11:g.178355477_178355482delinsTAAAAG , CM000666.1:g.178355477_178355482delinsTAAAAG GRCh37
NC_000004.10:g.178592471_178592476delinsTAAAAG NCBI36
NG_011845.2:g.13176_13181delinsCTTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.806+54_806+59delinsCTTTTA MANE Select ENSP00000264595.2:n.806+54_806+59delinsCTTTTA
ENST00000264595.6:c.806+54_806+59delinsCTTTTA ENSP00000264595.2:n.806+54_806+59delinsCTTTTA
ENST00000502310.5:c.377+54_377+59delinsCTTTTA ENSP00000423798.1:n.377+54_377+59delinsCTTTTA
NM_000027.3:c.806+54_806+59delinsCTTTTA NP_000018.2:n.806+54_806+59delinsCTTTTA
NM_001171988.1:c.776+54_776+59delinsCTTTTA NP_001165459.1:n.776+54_776+59delinsCTTTTA
NR_033655.1:n.858+54_858+59delinsCTTTTA
XR_001741155.2:n.878+54_878+59delinsCTTTTA
NM_000027.4:c.806+54_806+59delinsCTTTTA MANE Select NP_000018.2:n.806+54_806+59delinsCTTTTA
NM_001171988.2:c.776+54_776+59delinsCTTTTA NP_001165459.1:n.776+54_776+59delinsCTTTTA
NR_033655.2:n.792+54_792+59delinsCTTTTA