Canonical Allele Identifier: CA1515643920
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736909435

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439028del , CM000666.2:g.177439028del GRCh38
NC_000004.11:g.178360182del , CM000666.1:g.178360182del GRCh37
NC_000004.10:g.178597176del NCBI36
NG_011845.2:g.8476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.395-171del MANE Select ENSP00000264595.2:n.395-171del
ENST00000264595.6:c.395-171del ENSP00000264595.2:n.395-171del
ENST00000502310.5:c.50-171del ENSP00000423798.1:n.50-171del
ENST00000506853.5:n.429-171del
ENST00000510635.1:c.91-171del
ENST00000510955.5:n.316-171del
NM_000027.3:c.395-171del NP_000018.2:n.395-171del
NM_001171988.1:c.395-171del NP_001165459.1:n.395-171del
NR_033655.1:n.523-171del
XM_006714123.2:c.395-171del XP_006714186.1:n.395-171del
XR_001741155.2:n.489-171del
NM_000027.4:c.395-171del MANE Select NP_000018.2:n.395-171del
NM_001171988.2:c.395-171del NP_001165459.1:n.395-171del
NR_033655.2:n.457-171del