Canonical Allele Identifier: CA16040819
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 371162
ClinVar RCV Id: RCV000410625
dbSNP Id: rs1057517057

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99851106del , CM000663.2:g.99851106del GRCh38
NC_000001.10:g.100316662del , CM000663.1:g.100316662del GRCh37
NC_000001.9:g.100089250del NCBI36
NG_012865.1:g.6023del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.64del MANE Select ENSP00000355106.3:p.Leu22SerfsTer14
ENST00000294724.8:c.64del ENSP00000294724.4:p.Leu22SerfsTer14
ENST00000361302.7:c.-128del ENSP00000354971.3:n.-128del
ENST00000361915.7:c.64del ENSP00000355106.3:p.Leu22SerfsTer14
ENST00000370163.7:c.64del ENSP00000359182.3:p.Leu22SerfsTer14
ENST00000370165.7:c.64del ENSP00000359184.3:p.Leu22SerfsTer14
NM_000028.2:c.64del NP_000019.2:p.Leu22SerfsTer14
NM_000642.2:c.64del NP_000633.2:p.Leu22SerfsTer14
NM_000643.2:c.64del NP_000634.2:p.Leu22SerfsTer14
NM_000644.2:c.64del NP_000635.2:p.Leu22SerfsTer14
NM_000646.2:c.-128del NP_000637.2:n.-128del
XM_005270557.1:c.64del XP_005270614.1:p.Leu22SerfsTer14
XM_005270557.2:c.64del XP_005270614.1:p.Leu22SerfsTer14
NM_000642.3:c.64del MANE Select NP_000633.2:p.Leu22SerfsTer14