Canonical Allele Identifier: CA2707748833
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs2111023033

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440760del , CM000666.2:g.177440760del GRCh38
NC_000004.11:g.178361914del , CM000666.1:g.178361914del GRCh37
NC_000004.10:g.178598908del NCBI36
NG_011845.2:g.6745del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-333del MANE Select ENSP00000264595.2:n.128-333del
ENST00000264595.6:c.128-333del ENSP00000264595.2:n.128-333del
ENST00000506853.5:n.162-333del
ENST00000510955.5:n.162-333del
ENST00000511231.1:n.162-333del
NM_000027.3:c.128-333del NP_000018.2:n.128-333del
NM_001171988.1:c.128-333del NP_001165459.1:n.128-333del
NR_033655.1:n.256-333del
XM_006714123.2:c.128-333del XP_006714186.1:n.128-333del
XR_001741155.2:n.222-333del
NM_000027.4:c.128-333del MANE Select NP_000018.2:n.128-333del
NM_001171988.2:c.128-333del NP_001165459.1:n.128-333del
NR_033655.2:n.190-333del