Canonical Allele Identifier: CA2695198490

Gene: ASL

Linked Data

• ClinVar Variation Id: 2678785
• ClinVar RCV Id: RCV003472776

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082917dup , CM000669.2:g.66082917dup	GRCh38
NC_000007.13:g.65547904dup , CM000669.1:g.65547904dup	GRCh37
NC_000007.12:g.65185339dup	NCBI36
NG_009288.1:g.12129dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.329dup MANE Select	ENSP00000307188.9:p.Arg111ThrfsTer5
ENST00000362000.10:c.134dup	ENSP00000354710.6:p.Arg46ThrfsTer5
ENST00000380839.9:c.329dup	ENSP00000370219.4:p.Arg111ThrfsTer5
ENST00000395331.4:c.329dup	ENSP00000378740.3:p.Arg111ThrfsTer5
ENST00000395332.8:c.329dup	ENSP00000378741.3:p.Arg111ThrfsTer5
ENST00000671817.1:c.329dup	ENSP00000500462.1:p.Arg111ThrfsTer5
ENST00000672498.1:c.329dup	ENSP00000500227.1:p.Arg111ThrfsTer5
ENST00000672586.1:n.234dup
ENST00000672676.1:n.499dup
ENST00000673149.1:n.141dup
ENST00000673350.1:n.577dup
ENST00000673518.1:c.329dup	ENSP00000499889.1:p.Arg111ThrfsTer5
ENST00000673594.1:n.178dup
ENST00000304874.13:c.329dup	ENSP00000307188.9:p.Arg111ThrfsTer5
ENST00000362000.9:c.134dup	ENSP00000354710.5:p.Arg46ThrfsTer5
ENST00000380839.8:c.329dup	ENSP00000370219.4:p.Arg111ThrfsTer5
ENST00000395331.3:c.329dup	ENSP00000378740.3:p.Arg111ThrfsTer5
ENST00000395332.7:c.329dup	ENSP00000378741.3:p.Arg111ThrfsTer5
ENST00000487982.5:n.395dup
ENST00000496336.1:n.570dup
NM_000048.3:c.329dup	NP_000039.2:p.Arg111ThrfsTer5
NM_001024943.1:c.329dup	NP_001020114.1:p.Arg111ThrfsTer5
NM_001024944.1:c.329dup	NP_001020115.1:p.Arg111ThrfsTer5
NM_001024946.1:c.329dup	NP_001020117.1:p.Arg111ThrfsTer5
NM_000048.4:c.329dup MANE Select	NP_000039.2:p.Arg111ThrfsTer5
NM_001024943.2:c.329dup	NP_001020114.1:p.Arg111ThrfsTer5
NM_001024944.2:c.329dup	NP_001020115.1:p.Arg111ThrfsTer5
NM_001024946.2:c.329dup	NP_001020117.1:p.Arg111ThrfsTer5