Canonical Allele Identifier: CA114758
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1098
dbSNP Id: rs113994134

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99916706del , CM000663.2:g.99916706del GRCh38
NC_000001.10:g.100382262del , CM000663.1:g.100382262del GRCh37
NC_000001.9:g.100154850del NCBI36
NG_012865.1:g.71623del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.4456del MANE Select ENSP00000355106.3:p.Ser1486ProfsTer18
ENST00000637337.1:n.4667del
ENST00000294724.8:c.4456del ENSP00000294724.4:p.Ser1486ProfsTer18
ENST00000361302.7:c.4408del ENSP00000354971.3:p.Ser1470ProfsTer18
ENST00000361522.4:c.4405del ENSP00000354635.4:p.Ser1469ProfsTer18
ENST00000361915.7:c.4456del ENSP00000355106.3:p.Ser1486ProfsTer18
ENST00000370161.6:c.4408del ENSP00000359180.2:p.Ser1470ProfsTer18
ENST00000370163.7:c.4456del ENSP00000359182.3:p.Ser1486ProfsTer18
ENST00000370165.7:c.4456del ENSP00000359184.3:p.Ser1486ProfsTer18
NM_000028.2:c.4456del NP_000019.2:p.Ser1486ProfsTer18
NM_000642.2:c.4456del NP_000633.2:p.Ser1486ProfsTer18
NM_000643.2:c.4456del NP_000634.2:p.Ser1486ProfsTer18
NM_000644.2:c.4456del NP_000635.2:p.Ser1486ProfsTer18
NM_000645.2:c.4405del NP_000636.2:p.Ser1469ProfsTer18
NM_000646.2:c.4408del NP_000637.2:p.Ser1470ProfsTer18
XM_005270557.1:c.4456del XP_005270614.1:p.Ser1486ProfsTer18
XR_947626.1:n.1318-3487del
XR_947627.1:n.1207-3487del
XR_947628.1:n.1312-3487del
XR_947630.1:n.1250-3487del
XR_947632.1:n.1136-3487del
XR_947633.1:n.1247-3487del
XR_947634.1:n.661-3487del
XR_947635.1:n.729-3487del
XM_005270557.2:c.4456del XP_005270614.1:p.Ser1486ProfsTer18
XM_017000501.2:c.2716del XP_016855990.1:p.Ser906ProfsTer18
NM_000642.3:c.4456del MANE Select NP_000633.2:p.Ser1486ProfsTer18