Canonical Allele Identifier: CA2540951135
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440791_177440793del , CM000666.2:g.177440791_177440793del GRCh38
NC_000004.11:g.178361945_178361947del , CM000666.1:g.178361945_178361947del GRCh37
NC_000004.10:g.178598939_178598941del NCBI36
NG_011845.2:g.6715_6717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-363_128-361del MANE Select ENSP00000264595.2:n.128-363_128-361del
ENST00000264595.6:c.128-363_128-361del ENSP00000264595.2:n.128-363_128-361del
ENST00000506853.5:n.162-363_162-361del
ENST00000510955.5:n.162-363_162-361del
ENST00000511231.1:n.162-363_162-361del
NM_000027.3:c.128-363_128-361del NP_000018.2:n.128-363_128-361del
NM_001171988.1:c.128-363_128-361del NP_001165459.1:n.128-363_128-361del
NR_033655.1:n.256-363_256-361del
XM_006714123.2:c.128-363_128-361del XP_006714186.1:n.128-363_128-361del
XR_001741155.2:n.222-363_222-361del
NM_000027.4:c.128-363_128-361del MANE Select NP_000018.2:n.128-363_128-361del
NM_001171988.2:c.128-363_128-361del NP_001165459.1:n.128-363_128-361del
NR_033655.2:n.190-363_190-361del