Canonical Allele Identifier: CA2586967114
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99921583_99921586del , CM000663.2:g.99921583_99921586del GRCh38
NC_000001.10:g.100387139_100387142del , CM000663.1:g.100387139_100387142del GRCh37
NC_000001.9:g.100159727_100159730del NCBI36
NG_012865.1:g.76500_76503del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.4531_4534del MANE Select ENSP00000355106.3:p.Cys1511LeufsTer?
ENST00000637337.1:n.4742_4745del
ENST00000294724.8:c.4531_4534del ENSP00000294724.4:p.Cys1511LeufsTer?
ENST00000361302.7:c.4483_4486del ENSP00000354971.3:p.Cys1495LeufsTer?
ENST00000361522.4:c.4480_4483del ENSP00000354635.4:p.Cys1494LeufsTer?
ENST00000361915.7:c.4531_4534del ENSP00000355106.3:p.Cys1511LeufsTer?
ENST00000370161.6:c.4483_4486del ENSP00000359180.2:p.Cys1495LeufsTer?
ENST00000370163.7:c.4531_4534del ENSP00000359182.3:p.Cys1511LeufsTer?
ENST00000370165.7:c.4531_4534del ENSP00000359184.3:p.Cys1511LeufsTer?
NM_000028.2:c.4531_4534del NP_000019.2:p.Cys1511LeufsTer?
NM_000642.2:c.4531_4534del NP_000633.2:p.Cys1511LeufsTer?
NM_000643.2:c.4531_4534del NP_000634.2:p.Cys1511LeufsTer?
NM_000644.2:c.4531_4534del NP_000635.2:p.Cys1511LeufsTer?
NM_000645.2:c.4480_4483del NP_000636.2:p.Cys1494LeufsTer?
NM_000646.2:c.4483_4486del NP_000637.2:p.Cys1495LeufsTer?
XM_005270557.1:c.4531_4534del XP_005270614.1:p.Cys1511LeufsTer?
XR_947626.1:n.1317+2653_1317+2656del
XR_947627.1:n.1206+2653_1206+2656del
XR_947628.1:n.1311+2653_1311+2656del
XR_947630.1:n.1249+2653_1249+2656del
XR_947632.1:n.1135+2653_1135+2656del
XR_947633.1:n.1246+2653_1246+2656del
XR_947634.1:n.660+2653_660+2656del
XR_947635.1:n.728+2653_728+2656del
XM_005270557.2:c.4531_4534del XP_005270614.1:p.Cys1511LeufsTer?
XM_017000501.2:c.2791_2794del XP_016855990.1:p.Cys931LeufsTer?
NM_000642.3:c.4531_4534del MANE Select NP_000633.2:p.Cys1511LeufsTer?