Canonical Allele Identifier: CA16040937
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 371172
ClinVar RCV Id: RCV000411313
dbSNP Id: rs1057517062

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442348del , CM000666.2:g.177442348del GRCh38
NC_000004.11:g.178363502del , CM000666.1:g.178363502del GRCh37
NC_000004.10:g.178600496del NCBI36
NG_011845.2:g.5156del

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.28del MANE Select ENSP00000264595.2:p.Leu10PhefsTer11
ENST00000264595.6:c.28del ENSP00000264595.2:p.Leu10PhefsTer11
ENST00000506853.5:n.62del
ENST00000510955.5:n.62del
ENST00000511231.1:n.62del
NM_000027.3:c.28del NP_000018.2:p.Leu10PhefsTer11
NM_001171988.1:c.28del NP_001165459.1:p.Leu10PhefsTer11
NR_033655.1:n.156del
XM_006714123.2:c.28del XP_006714186.1:p.Leu10PhefsTer11
XR_001741155.2:n.122del
NM_000027.4:c.28del MANE Select NP_000018.2:p.Leu10PhefsTer11
NM_001171988.2:c.28del NP_001165459.1:p.Leu10PhefsTer11
NR_033655.2:n.90del