Canonical Allele Identifier: CA2580077305

Gene: ASL

Linked Data

• ClinVar Variation Id: 1725144
• ClinVar RCV Id: RCV002308203

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083131_66083132insCAAG , CM000669.2:g.66083131_66083132insCAAG	GRCh38
NC_000007.13:g.65548118_65548119insCAAG , CM000669.1:g.65548118_65548119insCAAG	GRCh37
NC_000007.12:g.65185553_65185554insCAAG	NCBI36
NG_009288.1:g.12343_12344insCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.403_404insCAAG MANE Select	ENSP00000307188.9:p.Leu135ProfsTer8
ENST00000362000.10:c.208_209insCAAG	ENSP00000354710.6:p.Leu70ProfsTer8
ENST00000380839.9:c.403_404insCAAG	ENSP00000370219.4:p.Leu135ProfsTer8
ENST00000395331.4:c.403_404insCAAG	ENSP00000378740.3:p.Leu135ProfsTer8
ENST00000395332.8:c.403_404insCAAG	ENSP00000378741.3:p.Leu135ProfsTer8
ENST00000671817.1:c.403_404insCAAG	ENSP00000500462.1:p.Leu135ProfsTer8
ENST00000672498.1:c.403_404insCAAG	ENSP00000500227.1:p.Leu135ProfsTer8
ENST00000672586.1:n.308_309insCAAG
ENST00000672676.1:n.573_574insCAAG
ENST00000673149.1:n.215_216insCAAG
ENST00000673350.1:n.651_652insCAAG
ENST00000673518.1:c.403_404insCAAG	ENSP00000499889.1:p.Leu135ProfsTer8
ENST00000673594.1:n.252_253insCAAG
ENST00000304874.13:c.403_404insCAAG	ENSP00000307188.9:p.Leu135ProfsTer8
ENST00000362000.9:c.208_209insCAAG	ENSP00000354710.5:p.Leu70ProfsTer8
ENST00000380839.8:c.403_404insCAAG	ENSP00000370219.4:p.Leu135ProfsTer8
ENST00000395331.3:c.403_404insCAAG	ENSP00000378740.3:p.Leu135ProfsTer8
ENST00000395332.7:c.403_404insCAAG	ENSP00000378741.3:p.Leu135ProfsTer8
ENST00000487982.5:n.469_470insCAAG
ENST00000496336.1:n.784_785insCAAG
NM_000048.3:c.403_404insCAAG	NP_000039.2:p.Leu135ProfsTer8
NM_001024943.1:c.403_404insCAAG	NP_001020114.1:p.Leu135ProfsTer8
NM_001024944.1:c.403_404insCAAG	NP_001020115.1:p.Leu135ProfsTer8
NM_001024946.1:c.403_404insCAAG	NP_001020117.1:p.Leu135ProfsTer8
NM_000048.4:c.403_404insCAAG MANE Select	NP_000039.2:p.Leu135ProfsTer8
NM_001024943.2:c.403_404insCAAG	NP_001020114.1:p.Leu135ProfsTer8
NM_001024944.2:c.403_404insCAAG	NP_001020115.1:p.Leu135ProfsTer8
NM_001024946.2:c.403_404insCAAG	NP_001020117.1:p.Leu135ProfsTer8