Canonical Allele Identifier: CA1713923122
Gene: ASL HGNC NCBI

Linked Data

dbSNP Id: rs1786759756

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66089073del , CM000669.2:g.66089073del GRCh38
NC_000007.13:g.65554060del , CM000669.1:g.65554060del GRCh37
NC_000007.12:g.65191495del NCBI36
NG_009288.1:g.18285del

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.834-18del MANE Select ENSP00000307188.9:n.834-18del
ENST00000362000.10:c.639-18del ENSP00000354710.6:n.639-18del
ENST00000380839.9:c.756-18del ENSP00000370219.4:n.756-18del
ENST00000395331.4:c.834-18del ENSP00000378740.3:n.834-18del
ENST00000395332.8:c.834-18del ENSP00000378741.3:n.834-18del
ENST00000488343.2:c.3-18del ENSP00000500864.1:n.3-18del
ENST00000671817.1:c.756-18del ENSP00000500462.1:n.756-18del
ENST00000672498.1:c.*133-18del ENSP00000500227.1:n.*133-18del
ENST00000672586.1:n.1593-18del
ENST00000672676.1:n.1858-18del
ENST00000673149.1:n.646-18del
ENST00000673350.1:n.2951-18del
ENST00000673518.1:c.756-18del ENSP00000499889.1:n.756-18del
ENST00000304874.13:c.834-18del ENSP00000307188.9:n.834-18del
ENST00000362000.9:c.639-18del ENSP00000354710.5:n.639-18del
ENST00000380839.8:c.756-18del ENSP00000370219.4:n.756-18del
ENST00000395331.3:c.834-18del ENSP00000378740.3:n.834-18del
ENST00000395332.7:c.834-18del ENSP00000378741.3:n.834-18del
ENST00000450043.2:c.147-18del ENSP00000396527.2:n.147-18del
ENST00000493708.5:n.215-18del
NM_000048.3:c.834-18del NP_000039.2:n.834-18del
NM_001024943.1:c.834-18del NP_001020114.1:n.834-18del
NM_001024944.1:c.834-18del NP_001020115.1:n.834-18del
NM_001024946.1:c.756-18del NP_001020117.1:n.756-18del
NM_000048.4:c.834-18del MANE Select NP_000039.2:n.834-18del
NM_001024943.2:c.834-18del NP_001020114.1:n.834-18del
NM_001024944.2:c.834-18del NP_001020115.1:n.834-18del
NM_001024946.2:c.756-18del NP_001020117.1:n.756-18del