Canonical Allele Identifier: CA1183924648
Gene: AGL HGNC NCBI

Linked Data

dbSNP Id: rs1650132576

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99862463_99862467del , CM000663.2:g.99862463_99862467del GRCh38
NC_000001.10:g.100328019_100328023del , CM000663.1:g.100328019_100328023del GRCh37
NC_000001.9:g.100100607_100100611del NCBI36
NG_012865.1:g.17380_17384del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.460+40_460+44del MANE Select ENSP00000355106.3:n.460+40_460+44del
ENST00000637337.1:n.671+40_671+44del
ENST00000294724.8:c.460+40_460+44del ENSP00000294724.4:n.460+40_460+44del
ENST00000361302.7:c.412+40_412+44del ENSP00000354971.3:n.412+40_412+44del
ENST00000361522.4:c.409+40_409+44del ENSP00000354635.4:n.409+40_409+44del
ENST00000361915.7:c.460+40_460+44del ENSP00000355106.3:n.460+40_460+44del
ENST00000370161.6:c.412+40_412+44del ENSP00000359180.2:n.412+40_412+44del
ENST00000370163.7:c.460+40_460+44del ENSP00000359182.3:n.460+40_460+44del
ENST00000370165.7:c.460+40_460+44del ENSP00000359184.3:n.460+40_460+44del
NM_000028.2:c.460+40_460+44del NP_000019.2:n.460+40_460+44del
NM_000642.2:c.460+40_460+44del NP_000633.2:n.460+40_460+44del
NM_000643.2:c.460+40_460+44del NP_000634.2:n.460+40_460+44del
NM_000644.2:c.460+40_460+44del NP_000635.2:n.460+40_460+44del
NM_000645.2:c.409+40_409+44del NP_000636.2:n.409+40_409+44del
NM_000646.2:c.412+40_412+44del NP_000637.2:n.412+40_412+44del
XM_005270557.1:c.460+40_460+44del XP_005270614.1:n.460+40_460+44del
XM_005270557.2:c.460+40_460+44del XP_005270614.1:n.460+40_460+44del
NM_000642.3:c.460+40_460+44del MANE Select NP_000633.2:n.460+40_460+44del