Canonical Allele Identifier: CA2739272699
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 2850193
ClinVar RCV Id: RCV003635272

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99891710_99891773del , CM000663.2:g.99891710_99891773del GRCh38
NC_000001.10:g.100357266_100357329del , CM000663.1:g.100357266_100357329del GRCh37
NC_000001.9:g.100129854_100129917del NCBI36
NG_012865.1:g.46627_46690del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.3054_3083+34del
ENST00000637337.1:n.3265_3294+34del
ENST00000294724.8:c.3054_3083+34del
ENST00000361302.7:c.3006_3035+34del
ENST00000361522.4:c.3003_3032+34del
ENST00000361915.7:c.3054_3083+34del
ENST00000370161.6:c.3006_3035+34del
ENST00000370163.7:c.3054_3083+34del
ENST00000370165.7:c.3054_3083+34del
NM_000028.2:c.3054_3083+34del
NM_000642.2:c.3054_3083+34del
NM_000643.2:c.3054_3083+34del
NM_000644.2:c.3054_3083+34del
NM_000645.2:c.3003_3032+34del
NM_000646.2:c.3006_3035+34del
XM_005270557.1:c.3054_3083+34del
XM_005270557.2:c.3054_3083+34del
XM_017000501.2:c.1314_1343+34del
NM_000642.3:c.3054_3083+34del