Canonical Allele Identifier: CA2574444702
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99921647del , CM000663.2:g.99921647del GRCh38
NC_000001.10:g.100387203del , CM000663.1:g.100387203del GRCh37
NC_000001.9:g.100159791del NCBI36
NG_012865.1:g.76564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.4595del MANE Select ENSP00000355106.3:p.Leu1532TyrfsTer15
ENST00000637337.1:n.4806del
ENST00000294724.8:c.4595del ENSP00000294724.4:p.Leu1532TyrfsTer15
ENST00000361302.7:c.4547del ENSP00000354971.3:p.Leu1516TyrfsTer15
ENST00000361522.4:c.4544del ENSP00000354635.4:p.Leu1515TyrfsTer15
ENST00000361915.7:c.4595del ENSP00000355106.3:p.Leu1532TyrfsTer15
ENST00000370161.6:c.4547del ENSP00000359180.2:p.Leu1516TyrfsTer15
ENST00000370163.7:c.4595del ENSP00000359182.3:p.Leu1532TyrfsTer15
ENST00000370165.7:c.4595del ENSP00000359184.3:p.Leu1532TyrfsTer15
NM_000028.2:c.4595del NP_000019.2:p.Leu1532TyrfsTer15
NM_000642.2:c.4595del NP_000633.2:p.Leu1532TyrfsTer15
NM_000643.2:c.4595del NP_000634.2:p.Leu1532TyrfsTer15
NM_000644.2:c.4595del NP_000635.2:p.Leu1532TyrfsTer15
NM_000645.2:c.4544del NP_000636.2:p.Leu1515TyrfsTer15
NM_000646.2:c.4547del NP_000637.2:p.Leu1516TyrfsTer15
XM_005270557.1:c.4595del XP_005270614.1:p.Leu1532TyrfsTer15
XR_947626.1:n.1317+2593del
XR_947627.1:n.1206+2593del
XR_947628.1:n.1311+2593del
XR_947630.1:n.1249+2593del
XR_947632.1:n.1135+2593del
XR_947633.1:n.1246+2593del
XR_947634.1:n.660+2593del
XR_947635.1:n.728+2593del
XM_005270557.2:c.4595del XP_005270614.1:p.Leu1532TyrfsTer15
XM_017000501.2:c.2855del XP_016855990.1:p.Leu952TyrfsTer15
NM_000642.3:c.4595del MANE Select NP_000633.2:p.Leu1532TyrfsTer15