Canonical Allele Identifier: CA274354
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 189080
ClinVar RCV Id: RCV000169486
dbSNP Id: rs786204678

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99876558del , CM000663.2:g.99876558del GRCh38
NC_000001.10:g.100342114del , CM000663.1:g.100342114del GRCh37
NC_000001.9:g.100114702del NCBI36
NG_012865.1:g.31475del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.1384del MANE Select ENSP00000355106.3:p.Val462Ter
ENST00000637337.1:n.1595del
ENST00000294724.8:c.1384del ENSP00000294724.4:p.Val462Ter
ENST00000361302.7:c.1336del ENSP00000354971.3:p.Val446Ter
ENST00000361522.4:c.1333del ENSP00000354635.4:p.Val445Ter
ENST00000361915.7:c.1384del ENSP00000355106.3:p.Val462Ter
ENST00000370161.6:c.1336del ENSP00000359180.2:p.Val446Ter
ENST00000370163.7:c.1384del ENSP00000359182.3:p.Val462Ter
ENST00000370165.7:c.1384del ENSP00000359184.3:p.Val462Ter
ENST00000477753.1:n.643del
NM_000028.2:c.1384del NP_000019.2:p.Val462Ter
NM_000642.2:c.1384del NP_000633.2:p.Val462Ter
NM_000643.2:c.1384del NP_000634.2:p.Val462Ter
NM_000644.2:c.1384del NP_000635.2:p.Val462Ter
NM_000645.2:c.1333del NP_000636.2:p.Val445Ter
NM_000646.2:c.1336del NP_000637.2:p.Val446Ter
XM_005270557.1:c.1384del XP_005270614.1:p.Val462Ter
XM_005270557.2:c.1384del XP_005270614.1:p.Val462Ter
NM_000642.3:c.1384del MANE Select NP_000633.2:p.Val462Ter