Canonical Allele Identifier: CA2744755895
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99891708_99891709del , CM000663.2:g.99891708_99891709del GRCh38
NC_000001.10:g.100357264_100357265del , CM000663.1:g.100357264_100357265del GRCh37
NC_000001.9:g.100129852_100129853del NCBI36
NG_012865.1:g.46625_46626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.3052_3053del MANE Select ENSP00000355106.3:p.Leu1018SerfsTer?
ENST00000637337.1:n.3263_3264del
ENST00000294724.8:c.3052_3053del ENSP00000294724.4:p.Leu1018SerfsTer?
ENST00000361302.7:c.3004_3005del ENSP00000354971.3:p.Leu1002SerfsTer?
ENST00000361522.4:c.3001_3002del ENSP00000354635.4:p.Leu1001SerfsTer?
ENST00000361915.7:c.3052_3053del ENSP00000355106.3:p.Leu1018SerfsTer?
ENST00000370161.6:c.3004_3005del ENSP00000359180.2:p.Leu1002SerfsTer?
ENST00000370163.7:c.3052_3053del ENSP00000359182.3:p.Leu1018SerfsTer?
ENST00000370165.7:c.3052_3053del ENSP00000359184.3:p.Leu1018SerfsTer?
NM_000028.2:c.3052_3053del NP_000019.2:p.Leu1018SerfsTer?
NM_000642.2:c.3052_3053del NP_000633.2:p.Leu1018SerfsTer?
NM_000643.2:c.3052_3053del NP_000634.2:p.Leu1018SerfsTer?
NM_000644.2:c.3052_3053del NP_000635.2:p.Leu1018SerfsTer?
NM_000645.2:c.3001_3002del NP_000636.2:p.Leu1001SerfsTer?
NM_000646.2:c.3004_3005del NP_000637.2:p.Leu1002SerfsTer?
XM_005270557.1:c.3052_3053del XP_005270614.1:p.Leu1018SerfsTer?
XM_005270557.2:c.3052_3053del XP_005270614.1:p.Leu1018SerfsTer?
XM_017000501.2:c.1312_1313del XP_016855990.1:p.Leu438SerfsTer?
NM_000642.3:c.3052_3053del MANE Select NP_000633.2:p.Leu1018SerfsTer?