Canonical Allele Identifier: CA16617221
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 422357
ClinVar RCV Id: RCV000482459
dbSNP Id: rs1064795728

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99921558_99921562del , CM000663.2:g.99921558_99921562del GRCh38
NC_000001.10:g.100387114_100387118del , CM000663.1:g.100387114_100387118del GRCh37
NC_000001.9:g.100159702_100159706del NCBI36
NG_012865.1:g.76475_76479del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.4506_4510del MANE Select ENSP00000355106.3:p.Glu1502AspfsTer3
ENST00000637337.1:n.4717_4721del
ENST00000294724.8:c.4506_4510del ENSP00000294724.4:p.Glu1502AspfsTer3
ENST00000361302.7:c.4458_4462del ENSP00000354971.3:p.Glu1486AspfsTer3
ENST00000361522.4:c.4455_4459del ENSP00000354635.4:p.Glu1485AspfsTer3
ENST00000361915.7:c.4506_4510del ENSP00000355106.3:p.Glu1502AspfsTer3
ENST00000370161.6:c.4458_4462del ENSP00000359180.2:p.Glu1486AspfsTer3
ENST00000370163.7:c.4506_4510del ENSP00000359182.3:p.Glu1502AspfsTer3
ENST00000370165.7:c.4506_4510del ENSP00000359184.3:p.Glu1502AspfsTer3
NM_000028.2:c.4506_4510del NP_000019.2:p.Glu1502AspfsTer3
NM_000642.2:c.4506_4510del NP_000633.2:p.Glu1502AspfsTer3
NM_000643.2:c.4506_4510del NP_000634.2:p.Glu1502AspfsTer3
NM_000644.2:c.4506_4510del NP_000635.2:p.Glu1502AspfsTer3
NM_000645.2:c.4455_4459del NP_000636.2:p.Glu1485AspfsTer3
NM_000646.2:c.4458_4462del NP_000637.2:p.Glu1486AspfsTer3
XM_005270557.1:c.4506_4510del XP_005270614.1:p.Glu1502AspfsTer3
XR_947626.1:n.1317+2678_1317+2682del
XR_947627.1:n.1206+2678_1206+2682del
XR_947628.1:n.1311+2678_1311+2682del
XR_947630.1:n.1249+2678_1249+2682del
XR_947632.1:n.1135+2678_1135+2682del
XR_947633.1:n.1246+2678_1246+2682del
XR_947634.1:n.660+2678_660+2682del
XR_947635.1:n.728+2678_728+2682del
XM_005270557.2:c.4506_4510del XP_005270614.1:p.Glu1502AspfsTer3
XM_017000501.2:c.2766_2770del XP_016855990.1:p.Glu922AspfsTer3
NM_000642.3:c.4506_4510del MANE Select NP_000633.2:p.Glu1502AspfsTer3