Canonical Allele Identifier: CA2744755503
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99870468_99870469insG , CM000663.2:g.99870468_99870469insG GRCh38
NC_000001.10:g.100336024_100336025insG , CM000663.1:g.100336024_100336025insG GRCh37
NC_000001.9:g.100108612_100108613insG NCBI36
NG_012865.1:g.25385_25386insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.733_734insG MANE Select ENSP00000355106.3:p.Lys245ArgfsTer16
ENST00000637337.1:n.944_945insG
ENST00000294724.8:c.733_734insG ENSP00000294724.4:p.Lys245ArgfsTer16
ENST00000361302.7:c.685_686insG ENSP00000354971.3:p.Lys229ArgfsTer16
ENST00000361522.4:c.682_683insG ENSP00000354635.4:p.Lys228ArgfsTer16
ENST00000361915.7:c.733_734insG ENSP00000355106.3:p.Lys245ArgfsTer16
ENST00000370161.6:c.685_686insG ENSP00000359180.2:p.Lys229ArgfsTer16
ENST00000370163.7:c.733_734insG ENSP00000359182.3:p.Lys245ArgfsTer16
ENST00000370165.7:c.733_734insG ENSP00000359184.3:p.Lys245ArgfsTer16
NM_000028.2:c.733_734insG NP_000019.2:p.Lys245ArgfsTer16
NM_000642.2:c.733_734insG NP_000633.2:p.Lys245ArgfsTer16
NM_000643.2:c.733_734insG NP_000634.2:p.Lys245ArgfsTer16
NM_000644.2:c.733_734insG NP_000635.2:p.Lys245ArgfsTer16
NM_000645.2:c.682_683insG NP_000636.2:p.Lys228ArgfsTer16
NM_000646.2:c.685_686insG NP_000637.2:p.Lys229ArgfsTer16
XM_005270557.1:c.733_734insG XP_005270614.1:p.Lys245ArgfsTer16
XM_005270557.2:c.733_734insG XP_005270614.1:p.Lys245ArgfsTer16
NM_000642.3:c.733_734insG MANE Select NP_000633.2:p.Lys245ArgfsTer16