Canonical Allele Identifier: CA2764653783
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439818del , CM000666.2:g.177439818del GRCh38
NC_000004.11:g.178360972del , CM000666.1:g.178360972del GRCh37
NC_000004.10:g.178597966del NCBI36
NG_011845.2:g.7686del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.282-130del MANE Select ENSP00000264595.2:n.282-130del
ENST00000264595.6:c.282-130del ENSP00000264595.2:n.282-130del
ENST00000506853.5:n.316-130del
ENST00000510955.5:n.315+455del
NM_000027.3:c.282-130del NP_000018.2:n.282-130del
NM_001171988.1:c.282-130del NP_001165459.1:n.282-130del
NR_033655.1:n.410-130del
XM_006714123.2:c.282-130del XP_006714186.1:n.282-130del
XR_001741155.2:n.376-130del
NM_000027.4:c.282-130del MANE Select NP_000018.2:n.282-130del
NM_001171988.2:c.282-130del NP_001165459.1:n.282-130del
NR_033655.2:n.344-130del