Canonical Allele Identifier: CA658821786

Gene: ASL

Linked Data

• ClinVar Variation Id: 555261
• ClinVar RCV Id: RCV000671050
• dbSNP Id: rs1554326365

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082443_66082445delinsGGCG , CM000669.2:g.66082443_66082445delinsGGCG	GRCh38
NC_000007.13:g.65547430_65547432delinsGGCG , CM000669.1:g.65547430_65547432delinsGGCG	GRCh37
NC_000007.12:g.65184865_65184867delinsGGCG	NCBI36
NG_009288.1:g.11655_11657delinsGGCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.283_285delinsGGCG MANE Select	ENSP00000307188.9:p.Arg95GlyfsTer21
ENST00000362000.10:c.88_90delinsGGCG	ENSP00000354710.6:p.Arg30GlyfsTer21
ENST00000380839.9:c.283_285delinsGGCG	ENSP00000370219.4:p.Arg95GlyfsTer21
ENST00000395331.4:c.283_285delinsGGCG	ENSP00000378740.3:p.Arg95GlyfsTer21
ENST00000395332.8:c.283_285delinsGGCG	ENSP00000378741.3:p.Arg95GlyfsTer21
ENST00000671817.1:c.283_285delinsGGCG	ENSP00000500462.1:p.Arg95GlyfsTer21
ENST00000672498.1:c.283_285delinsGGCG	ENSP00000500227.1:p.Arg95GlyfsTer21
ENST00000672586.1:n.188_190delinsGGCG
ENST00000672676.1:n.453_455delinsGGCG
ENST00000673350.1:n.531_533delinsGGCG
ENST00000673518.1:c.283_285delinsGGCG	ENSP00000499889.1:p.Arg95GlyfsTer21
ENST00000673594.1:n.132_134delinsGGCG
ENST00000304874.13:c.283_285delinsGGCG	ENSP00000307188.9:p.Arg95GlyfsTer21
ENST00000362000.9:c.88_90delinsGGCG	ENSP00000354710.5:p.Arg30GlyfsTer21
ENST00000380839.8:c.283_285delinsGGCG	ENSP00000370219.4:p.Arg95GlyfsTer21
ENST00000395331.3:c.283_285delinsGGCG	ENSP00000378740.3:p.Arg95GlyfsTer21
ENST00000395332.7:c.283_285delinsGGCG	ENSP00000378741.3:p.Arg95GlyfsTer21
ENST00000487982.5:n.349_351delinsGGCG
ENST00000496336.1:n.524_526delinsGGCG
NM_000048.3:c.283_285delinsGGCG	NP_000039.2:p.Arg95GlyfsTer21
NM_001024943.1:c.283_285delinsGGCG	NP_001020114.1:p.Arg95GlyfsTer21
NM_001024944.1:c.283_285delinsGGCG	NP_001020115.1:p.Arg95GlyfsTer21
NM_001024946.1:c.283_285delinsGGCG	NP_001020117.1:p.Arg95GlyfsTer21
NM_000048.4:c.283_285delinsGGCG MANE Select	NP_000039.2:p.Arg95GlyfsTer21
NM_001024943.2:c.283_285delinsGGCG	NP_001020114.1:p.Arg95GlyfsTer21
NM_001024944.2:c.283_285delinsGGCG	NP_001020115.1:p.Arg95GlyfsTer21
NM_001024946.2:c.283_285delinsGGCG	NP_001020117.1:p.Arg95GlyfsTer21