Canonical Allele Identifier: CA114763
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1103
dbSNP Id: rs113994132

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99913542del , CM000663.2:g.99913542del GRCh38
NC_000001.10:g.100379098del , CM000663.1:g.100379098del GRCh37
NC_000001.9:g.100151686del NCBI36
NG_012865.1:g.68459del

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.3965del MANE Select ENSP00000355106.3:p.Val1322AlafsTer27
ENST00000637337.1:n.4176del
ENST00000294724.8:c.3965del ENSP00000294724.4:p.Val1322AlafsTer27
ENST00000361302.7:c.3917del ENSP00000354971.3:p.Val1306AlafsTer27
ENST00000361522.4:c.3914del ENSP00000354635.4:p.Val1305AlafsTer27
ENST00000361915.7:c.3965del ENSP00000355106.3:p.Val1322AlafsTer27
ENST00000370161.6:c.3917del ENSP00000359180.2:p.Val1306AlafsTer27
ENST00000370163.7:c.3965del ENSP00000359182.3:p.Val1322AlafsTer27
ENST00000370165.7:c.3965del ENSP00000359184.3:p.Val1322AlafsTer27
NM_000028.2:c.3965del NP_000019.2:p.Val1322AlafsTer27
NM_000642.2:c.3965del NP_000633.2:p.Val1322AlafsTer27
NM_000643.2:c.3965del NP_000634.2:p.Val1322AlafsTer27
NM_000644.2:c.3965del NP_000635.2:p.Val1322AlafsTer27
NM_000645.2:c.3914del NP_000636.2:p.Val1305AlafsTer27
NM_000646.2:c.3917del NP_000637.2:p.Val1306AlafsTer27
XM_005270557.1:c.3965del XP_005270614.1:p.Val1322AlafsTer27
XR_947626.1:n.1318-325del
XR_947627.1:n.1207-325del
XR_947628.1:n.1312-325del
XR_947630.1:n.1250-325del
XR_947632.1:n.1136-325del
XR_947633.1:n.1247-325del
XR_947634.1:n.661-325del
XR_947635.1:n.729-325del
XM_005270557.2:c.3965del XP_005270614.1:p.Val1322AlafsTer27
XM_017000501.2:c.2225del XP_016855990.1:p.Val742AlafsTer27
NM_000642.3:c.3965del MANE Select NP_000633.2:p.Val1322AlafsTer27