Canonical Allele Identifier: CA1515646629
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736977653

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440769_177440770del , CM000666.2:g.177440769_177440770del GRCh38
NC_000004.11:g.178361923_178361924del , CM000666.1:g.178361923_178361924del GRCh37
NC_000004.10:g.178598917_178598918del NCBI36
NG_011845.2:g.6738_6739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-340_128-339del MANE Select ENSP00000264595.2:n.128-340_128-339del
ENST00000264595.6:c.128-340_128-339del ENSP00000264595.2:n.128-340_128-339del
ENST00000506853.5:n.162-340_162-339del
ENST00000510955.5:n.162-340_162-339del
ENST00000511231.1:n.162-340_162-339del
NM_000027.3:c.128-340_128-339del NP_000018.2:n.128-340_128-339del
NM_001171988.1:c.128-340_128-339del NP_001165459.1:n.128-340_128-339del
NR_033655.1:n.256-340_256-339del
XM_006714123.2:c.128-340_128-339del XP_006714186.1:n.128-340_128-339del
XR_001741155.2:n.222-340_222-339del
NM_000027.4:c.128-340_128-339del MANE Select NP_000018.2:n.128-340_128-339del
NM_001171988.2:c.128-340_128-339del NP_001165459.1:n.128-340_128-339del
NR_033655.2:n.190-340_190-339del