Canonical Allele Identifier: CA2580077283

Gene: ASL

Linked Data

• ClinVar Variation Id: 1725027
• ClinVar RCV Id: RCV002308086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66081908_66081909del , CM000669.2:g.66081908_66081909del	GRCh38
NC_000007.13:g.65546895_65546896del , CM000669.1:g.65546895_65546896del	GRCh37
NC_000007.12:g.65184330_65184331del	NCBI36
NG_009288.1:g.11120_11121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.118_119del MANE Select	ENSP00000307188.9:p.Gln40ArgfsTer?
ENST00000362000.10:c.13-460_13-459del	ENSP00000354710.6:n.13-460_13-459del
ENST00000380839.9:c.118_119del	ENSP00000370219.4:p.Gln40ArgfsTer?
ENST00000395331.4:c.118_119del	ENSP00000378740.3:p.Gln40ArgfsTer?
ENST00000395332.8:c.118_119del	ENSP00000378741.3:p.Gln40ArgfsTer?
ENST00000671817.1:c.118_119del	ENSP00000500462.1:p.Gln40ArgfsTer?
ENST00000672498.1:c.118_119del	ENSP00000500227.1:p.Gln40ArgfsTer?
ENST00000672586.1:n.113-460_113-459del
ENST00000672676.1:n.288_289del
ENST00000673350.1:n.366_367del
ENST00000673518.1:c.118_119del	ENSP00000499889.1:p.Gln40ArgfsTer?
ENST00000304874.13:c.118_119del	ENSP00000307188.9:p.Gln40ArgfsTer?
ENST00000362000.9:c.13-460_13-459del	ENSP00000354710.5:n.13-460_13-459del
ENST00000380839.8:c.118_119del	ENSP00000370219.4:p.Gln40ArgfsTer?
ENST00000395331.3:c.118_119del	ENSP00000378740.3:p.Gln40ArgfsTer?
ENST00000395332.7:c.118_119del	ENSP00000378741.3:p.Gln40ArgfsTer?
ENST00000487982.5:n.184_185del
ENST00000496336.1:n.359_360del
NM_000048.3:c.118_119del	NP_000039.2:p.Gln40ArgfsTer?
NM_001024943.1:c.118_119del	NP_001020114.1:p.Gln40ArgfsTer?
NM_001024944.1:c.118_119del	NP_001020115.1:p.Gln40ArgfsTer?
NM_001024946.1:c.118_119del	NP_001020117.1:p.Gln40ArgfsTer?
NM_000048.4:c.118_119del MANE Select	NP_000039.2:p.Gln40ArgfsTer?
NM_001024943.2:c.118_119del	NP_001020114.1:p.Gln40ArgfsTer?
NM_001024944.2:c.118_119del	NP_001020115.1:p.Gln40ArgfsTer?
NM_001024946.2:c.118_119del	NP_001020117.1:p.Gln40ArgfsTer?