Canonical Allele Identifier: CA524711221
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 2160317
ClinVar RCV Id: RCV003087605
dbSNP Id: rs1175546784

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99921577del , CM000663.2:g.99921577del GRCh38
NC_000001.10:g.100387133del , CM000663.1:g.100387133del GRCh37
NC_000001.9:g.100159721del NCBI36
NG_012865.1:g.76494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.4525del MANE Select ENSP00000355106.3:p.Gln1509SerfsTer?
ENST00000637337.1:n.4736del
ENST00000294724.8:c.4525del ENSP00000294724.4:p.Gln1509SerfsTer?
ENST00000361302.7:c.4477del ENSP00000354971.3:p.Gln1493SerfsTer?
ENST00000361522.4:c.4474del ENSP00000354635.4:p.Gln1492SerfsTer?
ENST00000361915.7:c.4525del ENSP00000355106.3:p.Gln1509SerfsTer?
ENST00000370161.6:c.4477del ENSP00000359180.2:p.Gln1493SerfsTer?
ENST00000370163.7:c.4525del ENSP00000359182.3:p.Gln1509SerfsTer?
ENST00000370165.7:c.4525del ENSP00000359184.3:p.Gln1509SerfsTer?
NM_000028.2:c.4525del NP_000019.2:p.Gln1509SerfsTer?
NM_000642.2:c.4525del NP_000633.2:p.Gln1509SerfsTer?
NM_000643.2:c.4525del NP_000634.2:p.Gln1509SerfsTer?
NM_000644.2:c.4525del NP_000635.2:p.Gln1509SerfsTer?
NM_000645.2:c.4474del NP_000636.2:p.Gln1492SerfsTer?
NM_000646.2:c.4477del NP_000637.2:p.Gln1493SerfsTer?
XM_005270557.1:c.4525del XP_005270614.1:p.Gln1509SerfsTer?
XR_947626.1:n.1317+2663del
XR_947627.1:n.1206+2663del
XR_947628.1:n.1311+2663del
XR_947630.1:n.1249+2663del
XR_947632.1:n.1135+2663del
XR_947633.1:n.1246+2663del
XR_947634.1:n.660+2663del
XR_947635.1:n.728+2663del
XM_005270557.2:c.4525del XP_005270614.1:p.Gln1509SerfsTer?
XM_017000501.2:c.2785del XP_016855990.1:p.Gln929SerfsTer?
NM_000642.3:c.4525del MANE Select NP_000633.2:p.Gln1509SerfsTer?