Canonical Allele Identifier: CA16040835
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 371263
ClinVar RCV Id: RCV000409251
dbSNP Id: rs1057517136

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99881661del , CM000663.2:g.99881661del GRCh38
NC_000001.10:g.100347217del , CM000663.1:g.100347217del GRCh37
NC_000001.9:g.100119805del NCBI36
NG_012865.1:g.36578del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.2278del MANE Select ENSP00000355106.3:p.Ser760AlafsTer16
ENST00000637337.1:n.2489del
ENST00000294724.8:c.2278del ENSP00000294724.4:p.Ser760AlafsTer16
ENST00000361302.7:c.2230del ENSP00000354971.3:p.Ser744AlafsTer16
ENST00000361522.4:c.2227del ENSP00000354635.4:p.Ser743AlafsTer16
ENST00000361915.7:c.2278del ENSP00000355106.3:p.Ser760AlafsTer16
ENST00000370161.6:c.2230del ENSP00000359180.2:p.Ser744AlafsTer16
ENST00000370163.7:c.2278del ENSP00000359182.3:p.Ser760AlafsTer16
ENST00000370165.7:c.2278del ENSP00000359184.3:p.Ser760AlafsTer16
NM_000028.2:c.2278del NP_000019.2:p.Ser760AlafsTer16
NM_000642.2:c.2278del NP_000633.2:p.Ser760AlafsTer16
NM_000643.2:c.2278del NP_000634.2:p.Ser760AlafsTer16
NM_000644.2:c.2278del NP_000635.2:p.Ser760AlafsTer16
NM_000645.2:c.2227del NP_000636.2:p.Ser743AlafsTer16
NM_000646.2:c.2230del NP_000637.2:p.Ser744AlafsTer16
XM_005270557.1:c.2278del XP_005270614.1:p.Ser760AlafsTer16
XM_005270557.2:c.2278del XP_005270614.1:p.Ser760AlafsTer16
XM_017000501.2:c.538del XP_016855990.1:p.Ser180AlafsTer16
NM_000642.3:c.2278del MANE Select NP_000633.2:p.Ser760AlafsTer16