Canonical Allele Identifier: CA312349
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 203629
dbSNP Id: rs796051933

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66089678_66089690del , CM000669.2:g.66089678_66089690del GRCh38
NC_000007.13:g.65554665_65554677del , CM000669.1:g.65554665_65554677del GRCh37
NC_000007.12:g.65192100_65192112del NCBI36
NG_009288.1:g.18890_18902del

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.1045_1057del MANE Select ENSP00000307188.9:p.Val349CysfsTer?
ENST00000362000.10:c.850_862del ENSP00000354710.6:p.Val284CysfsTer?
ENST00000380839.9:c.967_979del ENSP00000370219.4:p.Val323CysfsTer?
ENST00000395331.4:c.985_997del ENSP00000378740.3:p.Val329CysfsTer?
ENST00000395332.8:c.1045_1057del ENSP00000378741.3:p.Val349CysfsTer?
ENST00000488343.2:c.147+343_147+355del ENSP00000500864.1:n.147+343_147+355del
ENST00000671817.1:c.967_979del ENSP00000500462.1:p.Val323CysfsTer?
ENST00000672498.1:c.*344_*356del ENSP00000500227.1:n.*344_*356del
ENST00000672586.1:n.1804_1816del
ENST00000672676.1:n.2069_2081del
ENST00000673149.1:n.857_869del
ENST00000673350.1:n.3162_3174del
ENST00000673518.1:c.967_979del ENSP00000499889.1:p.Val323CysfsTer?
ENST00000304874.13:c.1045_1057del ENSP00000307188.9:p.Val349CysfsTer?
ENST00000380839.8:c.967_979del ENSP00000370219.4:p.Val323CysfsTer?
ENST00000395331.3:c.985_997del ENSP00000378740.3:p.Val329CysfsTer?
ENST00000395332.7:c.1045_1057del ENSP00000378741.3:p.Val349CysfsTer?
ENST00000450043.2:c.358_370del ENSP00000396527.2:p.Val120CysfsTer?
ENST00000464970.1:n.164_176del
ENST00000488343.1:n.147+343_147+355del
ENST00000493708.5:n.526_538del
NM_000048.3:c.1045_1057del NP_000039.2:p.Val349CysfsTer?
NM_001024943.1:c.1045_1057del NP_001020114.1:p.Val349CysfsTer?
NM_001024944.1:c.985_997del NP_001020115.1:p.Val329CysfsTer?
NM_001024946.1:c.967_979del NP_001020117.1:p.Val323CysfsTer?
NM_000048.4:c.1045_1057del MANE Select NP_000039.2:p.Val349CysfsTer?
NM_001024943.2:c.1045_1057del NP_001020114.1:p.Val349CysfsTer?
NM_001024944.2:c.985_997del NP_001020115.1:p.Val329CysfsTer?
NM_001024946.2:c.967_979del NP_001020117.1:p.Val323CysfsTer?