Canonical Allele Identifier: CA1713923345
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66089161_66089163delinsCGT , CM000669.2:g.66089161_66089163delinsCGT GRCh38
NC_000007.13:g.65554148_65554150delinsCGT , CM000669.1:g.65554148_65554150delinsCGT GRCh37
NC_000007.12:g.65191583_65191585delinsCGT NCBI36
NG_009288.1:g.18373_18375delinsCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.904_906delinsCGT MANE Select ENSP00000307188.9:p.Arg302=
ENST00000362000.10:c.709_711delinsCGT ENSP00000354710.6:p.Arg237=
ENST00000380839.9:c.826_828delinsCGT ENSP00000370219.4:p.Arg276=
ENST00000395331.4:c.904_906delinsCGT ENSP00000378740.3:p.Arg302=
ENST00000395332.8:c.904_906delinsCGT ENSP00000378741.3:p.Arg302=
ENST00000488343.2:c.73_75delinsCGT ENSP00000500864.1:p.Arg25=
ENST00000671817.1:c.826_828delinsCGT ENSP00000500462.1:p.Arg276=
ENST00000672498.1:c.*203_*205delinsCGT ENSP00000500227.1:n.*203_*205delinsCGT
ENST00000672586.1:n.1663_1665delinsCGT
ENST00000672676.1:n.1928_1930delinsCGT
ENST00000673149.1:n.716_718delinsCGT
ENST00000673350.1:n.3021_3023delinsCGT
ENST00000673518.1:c.826_828delinsCGT ENSP00000499889.1:p.Arg276=
ENST00000304874.13:c.904_906delinsCGT ENSP00000307188.9:p.Arg302=
ENST00000362000.9:c.709_711delinsCGT ENSP00000354710.5:p.Arg237=
ENST00000380839.8:c.826_828delinsCGT ENSP00000370219.4:p.Arg276=
ENST00000395331.3:c.904_906delinsCGT ENSP00000378740.3:p.Arg302=
ENST00000395332.7:c.904_906delinsCGT ENSP00000378741.3:p.Arg302=
ENST00000450043.2:c.217_219delinsCGT ENSP00000396527.2:p.Arg73=
ENST00000488343.1:n.73_75delinsCGT
ENST00000493708.5:n.285_287delinsCGT
NM_000048.3:c.904_906delinsCGT NP_000039.2:p.Arg302=
NM_001024943.1:c.904_906delinsCGT NP_001020114.1:p.Arg302=
NM_001024944.1:c.904_906delinsCGT NP_001020115.1:p.Arg302=
NM_001024946.1:c.826_828delinsCGT NP_001020117.1:p.Arg276=
NM_000048.4:c.904_906delinsCGT MANE Select NP_000039.2:p.Arg302=
NM_001024943.2:c.904_906delinsCGT NP_001020114.1:p.Arg302=
NM_001024944.2:c.904_906delinsCGT NP_001020115.1:p.Arg302=
NM_001024946.2:c.826_828delinsCGT NP_001020117.1:p.Arg276=