Canonical Allele Identifier: CA2578238602
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442452del , CM000666.2:g.177442452del GRCh38
NC_000004.11:g.178363606del , CM000666.1:g.178363606del GRCh37
NC_000004.10:g.178600600del NCBI36
NG_011845.2:g.5055del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.6:c.-74del ENSP00000264595.2:n.-74del
NM_000027.3:c.-74del NP_000018.2:n.-74del
NM_001171988.1:c.-74del NP_001165459.1:n.-74del
NR_033655.1:n.55del
XM_006714123.2:c.-74del XP_006714186.1:n.-74del
XR_001741155.2:n.21del