Canonical Allele Identifier: CA2683086448
Gene: ASL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66087633_66087634insCT , CM000669.2:g.66087633_66087634insCT GRCh38
NC_000007.13:g.65552620_65552621insCT , CM000669.1:g.65552620_65552621insCT GRCh37
NC_000007.12:g.65190055_65190056insCT NCBI36
NG_009288.1:g.16845_16846insCT

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.656-96_656-95insCT MANE Select ENSP00000307188.9:n.656-96_656-95insCT
ENST00000362000.10:c.461-96_461-95insCT ENSP00000354710.6:n.461-96_461-95insCT
ENST00000380839.9:c.578-96_578-95insCT ENSP00000370219.4:n.578-96_578-95insCT
ENST00000395331.4:c.656-96_656-95insCT ENSP00000378740.3:n.656-96_656-95insCT
ENST00000395332.8:c.656-96_656-95insCT ENSP00000378741.3:n.656-96_656-95insCT
ENST00000671817.1:c.578-96_578-95insCT ENSP00000500462.1:n.578-96_578-95insCT
ENST00000672498.1:c.447-96_447-95insCT ENSP00000500227.1:n.447-96_447-95insCT
ENST00000672586.1:n.1319_1320insCT
ENST00000672676.1:n.1584_1585insCT
ENST00000673149.1:n.468-96_468-95insCT
ENST00000673350.1:n.1662_1663insCT
ENST00000673518.1:c.578-96_578-95insCT ENSP00000499889.1:n.578-96_578-95insCT
ENST00000673594.1:n.751_752insCT
ENST00000304874.13:c.656-96_656-95insCT ENSP00000307188.9:n.656-96_656-95insCT
ENST00000362000.9:c.461-96_461-95insCT ENSP00000354710.5:n.461-96_461-95insCT
ENST00000380839.8:c.578-96_578-95insCT ENSP00000370219.4:n.578-96_578-95insCT
ENST00000395331.3:c.656-96_656-95insCT ENSP00000378740.3:n.656-96_656-95insCT
ENST00000395332.7:c.656-96_656-95insCT ENSP00000378741.3:n.656-96_656-95insCT
NM_000048.3:c.656-96_656-95insCT NP_000039.2:n.656-96_656-95insCT
NM_001024943.1:c.656-96_656-95insCT NP_001020114.1:n.656-96_656-95insCT
NM_001024944.1:c.656-96_656-95insCT NP_001020115.1:n.656-96_656-95insCT
NM_001024946.1:c.578-96_578-95insCT NP_001020117.1:n.578-96_578-95insCT
NM_000048.4:c.656-96_656-95insCT MANE Select NP_000039.2:n.656-96_656-95insCT
NM_001024943.2:c.656-96_656-95insCT NP_001020114.1:n.656-96_656-95insCT
NM_001024944.2:c.656-96_656-95insCT NP_001020115.1:n.656-96_656-95insCT
NM_001024946.2:c.578-96_578-95insCT NP_001020117.1:n.578-96_578-95insCT