Canonical Allele Identifier: CA2841942453
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440274dup , CM000666.2:g.177440274dup GRCh38
NC_000004.11:g.178361428dup , CM000666.1:g.178361428dup GRCh37
NC_000004.10:g.178598422dup NCBI36
NG_011845.2:g.7232dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.281+1dup
ENST00000264595.6:c.281+1dup
ENST00000506853.5:n.315+1dup
ENST00000510955.5:n.315+1dup
ENST00000511231.1:n.316dup
NM_000027.3:c.281+1dup
NM_001171988.1:c.281+1dup
NR_033655.1:n.409+1dup
XM_006714123.2:c.281+1dup
XR_001741155.2:n.375+1dup
NM_000027.4:c.281+1dup
NM_001171988.2:c.281+1dup
NR_033655.2:n.343+1dup