Canonical Allele Identifier: CA3147054
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 552792
ClinVar RCV Id: RCV000668122
dbSNP Id: rs764598121

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442290del , CM000666.2:g.177442290del GRCh38
NC_000004.11:g.178363444del , CM000666.1:g.178363444del GRCh37
NC_000004.10:g.178600438del NCBI36
NG_011845.2:g.5214del

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.86del MANE Select ENSP00000264595.2:p.Leu29ArgfsTer19
ENST00000264595.6:c.86del ENSP00000264595.2:p.Leu29ArgfsTer19
ENST00000506853.5:n.120del
ENST00000510955.5:n.120del
ENST00000511231.1:n.120del
NM_000027.3:c.86del NP_000018.2:p.Leu29ArgfsTer19
NM_001171988.1:c.86del NP_001165459.1:p.Leu29ArgfsTer19
NR_033655.1:n.214del
XM_006714123.2:c.86del XP_006714186.1:p.Leu29ArgfsTer19
XR_001741155.2:n.180del
NM_000027.4:c.86del MANE Select NP_000018.2:p.Leu29ArgfsTer19
NM_001171988.2:c.86del NP_001165459.1:p.Leu29ArgfsTer19
NR_033655.2:n.148del