Canonical Allele Identifier: CA1515646533
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736973656

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440680_177440684del , CM000666.2:g.177440680_177440684del GRCh38
NC_000004.11:g.178361834_178361838del , CM000666.1:g.178361834_178361838del GRCh37
NC_000004.10:g.178598828_178598832del NCBI36
NG_011845.2:g.6820_6824del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-258_128-254del MANE Select ENSP00000264595.2:n.128-258_128-254del
ENST00000264595.6:c.128-258_128-254del ENSP00000264595.2:n.128-258_128-254del
ENST00000506853.5:n.162-258_162-254del
ENST00000510955.5:n.162-258_162-254del
ENST00000511231.1:n.162-258_162-254del
NM_000027.3:c.128-258_128-254del NP_000018.2:n.128-258_128-254del
NM_001171988.1:c.128-258_128-254del NP_001165459.1:n.128-258_128-254del
NR_033655.1:n.256-258_256-254del
XM_006714123.2:c.128-258_128-254del XP_006714186.1:n.128-258_128-254del
XR_001741155.2:n.222-258_222-254del
NM_000027.4:c.128-258_128-254del MANE Select NP_000018.2:n.128-258_128-254del
NM_001171988.2:c.128-258_128-254del NP_001165459.1:n.128-258_128-254del
NR_033655.2:n.190-258_190-254del