Canonical Allele Identifier: CA2841441362

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083129dup , CM000669.2:g.66083129dup	GRCh38
NC_000007.13:g.65548116dup , CM000669.1:g.65548116dup	GRCh37
NC_000007.12:g.65185551dup	NCBI36
NG_009288.1:g.12341dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.401dup MANE Select	ENSP00000307188.9:p.Leu135ProfsTer7
ENST00000362000.10:c.206dup	ENSP00000354710.6:p.Leu70ProfsTer7
ENST00000380839.9:c.401dup	ENSP00000370219.4:p.Leu135ProfsTer7
ENST00000395331.4:c.401dup	ENSP00000378740.3:p.Leu135ProfsTer7
ENST00000395332.8:c.401dup	ENSP00000378741.3:p.Leu135ProfsTer7
ENST00000671817.1:c.401dup	ENSP00000500462.1:p.Leu135ProfsTer7
ENST00000672498.1:c.401dup	ENSP00000500227.1:p.Leu135ProfsTer7
ENST00000672586.1:n.306dup
ENST00000672676.1:n.571dup
ENST00000673149.1:n.213dup
ENST00000673350.1:n.649dup
ENST00000673518.1:c.401dup	ENSP00000499889.1:p.Leu135ProfsTer7
ENST00000673594.1:n.250dup
ENST00000304874.13:c.401dup	ENSP00000307188.9:p.Leu135ProfsTer7
ENST00000362000.9:c.206dup	ENSP00000354710.5:p.Leu70ProfsTer7
ENST00000380839.8:c.401dup	ENSP00000370219.4:p.Leu135ProfsTer7
ENST00000395331.3:c.401dup	ENSP00000378740.3:p.Leu135ProfsTer7
ENST00000395332.7:c.401dup	ENSP00000378741.3:p.Leu135ProfsTer7
ENST00000487982.5:n.467dup
ENST00000496336.1:n.782dup
NM_000048.3:c.401dup	NP_000039.2:p.Leu135ProfsTer7
NM_001024943.1:c.401dup	NP_001020114.1:p.Leu135ProfsTer7
NM_001024944.1:c.401dup	NP_001020115.1:p.Leu135ProfsTer7
NM_001024946.1:c.401dup	NP_001020117.1:p.Leu135ProfsTer7
NM_000048.4:c.401dup MANE Select	NP_000039.2:p.Leu135ProfsTer7
NM_001024943.2:c.401dup	NP_001020114.1:p.Leu135ProfsTer7
NM_001024944.2:c.401dup	NP_001020115.1:p.Leu135ProfsTer7
NM_001024946.2:c.401dup	NP_001020117.1:p.Leu135ProfsTer7