Canonical Allele Identifier: CA2558035420
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440769_177440772del , CM000666.2:g.177440769_177440772del GRCh38
NC_000004.11:g.178361923_178361926del , CM000666.1:g.178361923_178361926del GRCh37
NC_000004.10:g.178598917_178598920del NCBI36
NG_011845.2:g.6732_6735del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-346_128-343del MANE Select ENSP00000264595.2:n.128-346_128-343del
ENST00000264595.6:c.128-346_128-343del ENSP00000264595.2:n.128-346_128-343del
ENST00000506853.5:n.162-346_162-343del
ENST00000510955.5:n.162-346_162-343del
ENST00000511231.1:n.162-346_162-343del
NM_000027.3:c.128-346_128-343del NP_000018.2:n.128-346_128-343del
NM_001171988.1:c.128-346_128-343del NP_001165459.1:n.128-346_128-343del
NR_033655.1:n.256-346_256-343del
XM_006714123.2:c.128-346_128-343del XP_006714186.1:n.128-346_128-343del
XR_001741155.2:n.222-346_222-343del
NM_000027.4:c.128-346_128-343del MANE Select NP_000018.2:n.128-346_128-343del
NM_001171988.2:c.128-346_128-343del NP_001165459.1:n.128-346_128-343del
NR_033655.2:n.190-346_190-343del