Canonical Allele Identifier: CA1515646287
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736964379

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440510_177440512del , CM000666.2:g.177440510_177440512del GRCh38
NC_000004.11:g.178361664_178361666del , CM000666.1:g.178361664_178361666del GRCh37
NC_000004.10:g.178598658_178598660del NCBI36
NG_011845.2:g.6995_6997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-83_128-81del MANE Select ENSP00000264595.2:n.128-83_128-81del
ENST00000264595.6:c.128-83_128-81del ENSP00000264595.2:n.128-83_128-81del
ENST00000506853.5:n.162-83_162-81del
ENST00000510955.5:n.162-83_162-81del
ENST00000511231.1:n.162-83_162-81del
NM_000027.3:c.128-83_128-81del NP_000018.2:n.128-83_128-81del
NM_001171988.1:c.128-83_128-81del NP_001165459.1:n.128-83_128-81del
NR_033655.1:n.256-83_256-81del
XM_006714123.2:c.128-83_128-81del XP_006714186.1:n.128-83_128-81del
XR_001741155.2:n.222-83_222-81del
NM_000027.4:c.128-83_128-81del MANE Select NP_000018.2:n.128-83_128-81del
NM_001171988.2:c.128-83_128-81del NP_001165459.1:n.128-83_128-81del
NR_033655.2:n.190-83_190-81del