Canonical Allele Identifier: CA2573142310
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 1573026
ClinVar RCV Id: RCV002215737
dbSNP Id: rs2115732818

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66087719del , CM000669.2:g.66087719del GRCh38
NC_000007.13:g.65552706del , CM000669.1:g.65552706del GRCh37
NC_000007.12:g.65190141del NCBI36
NG_009288.1:g.16931del

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.656-10del MANE Select ENSP00000307188.9:n.656-10del
ENST00000362000.10:c.461-10del ENSP00000354710.6:n.461-10del
ENST00000380839.9:c.578-10del ENSP00000370219.4:n.578-10del
ENST00000395331.4:c.656-10del ENSP00000378740.3:n.656-10del
ENST00000395332.8:c.656-10del ENSP00000378741.3:n.656-10del
ENST00000671817.1:c.578-10del ENSP00000500462.1:n.578-10del
ENST00000672498.1:c.447-10del ENSP00000500227.1:n.447-10del
ENST00000672586.1:n.1405del
ENST00000672676.1:n.1670del
ENST00000673149.1:n.468-10del
ENST00000673350.1:n.1748del
ENST00000673518.1:c.578-10del ENSP00000499889.1:n.578-10del
ENST00000304874.13:c.656-10del ENSP00000307188.9:n.656-10del
ENST00000362000.9:c.461-10del ENSP00000354710.5:n.461-10del
ENST00000380839.8:c.578-10del ENSP00000370219.4:n.578-10del
ENST00000395331.3:c.656-10del ENSP00000378740.3:n.656-10del
ENST00000395332.7:c.656-10del ENSP00000378741.3:n.656-10del
ENST00000493708.5:n.27del
NM_000048.3:c.656-10del NP_000039.2:n.656-10del
NM_001024943.1:c.656-10del NP_001020114.1:n.656-10del
NM_001024944.1:c.656-10del NP_001020115.1:n.656-10del
NM_001024946.1:c.578-10del NP_001020117.1:n.578-10del
NM_000048.4:c.656-10del MANE Select NP_000039.2:n.656-10del
NM_001024943.2:c.656-10del NP_001020114.1:n.656-10del
NM_001024944.2:c.656-10del NP_001020115.1:n.656-10del
NM_001024946.2:c.578-10del NP_001020117.1:n.578-10del