Canonical Allele Identifier: CA2697552540
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 2733177
ClinVar RCV Id: RCV003518698

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99862364_99862498delinsTATTACAT , CM000663.2:g.99862364_99862498delinsTATTACAT GRCh38
NC_000001.10:g.100327920_100328054delinsTATTACAT , CM000663.1:g.100327920_100328054delinsTATTACAT GRCh37
NC_000001.9:g.100100508_100100642delinsTATTACAT NCBI36
NG_012865.1:g.17281_17415delinsTATTACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.401_460+75delinsTATTACAT
ENST00000637337.1:n.612_671+75delinsTATTACAT
ENST00000294724.8:c.401_460+75delinsTATTACAT
ENST00000361302.7:c.353_412+75delinsTATTACAT
ENST00000361522.4:c.350_409+75delinsTATTACAT
ENST00000361915.7:c.401_460+75delinsTATTACAT
ENST00000370161.6:c.353_412+75delinsTATTACAT
ENST00000370163.7:c.401_460+75delinsTATTACAT
ENST00000370165.7:c.401_460+75delinsTATTACAT
NM_000028.2:c.401_460+75delinsTATTACAT
NM_000642.2:c.401_460+75delinsTATTACAT
NM_000643.2:c.401_460+75delinsTATTACAT
NM_000644.2:c.401_460+75delinsTATTACAT
NM_000645.2:c.350_409+75delinsTATTACAT
NM_000646.2:c.353_412+75delinsTATTACAT
XM_005270557.1:c.401_460+75delinsTATTACAT
XM_005270557.2:c.401_460+75delinsTATTACAT
NM_000642.3:c.401_460+75delinsTATTACAT