Canonical Allele Identifier: CA2683084231

Gene: ASL

Linked Data

• gnomAD v4: 7-66082415-T-TGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082418_66082420dup , CM000669.2:g.66082418_66082420dup	GRCh38
NC_000007.13:g.65547405_65547407dup , CM000669.1:g.65547405_65547407dup	GRCh37
NC_000007.12:g.65184840_65184842dup	NCBI36
NG_009288.1:g.11630_11632dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.258_260dup MANE Select	ENSP00000307188.9:p.Glu86_Asp87insGlu
ENST00000362000.10:c.63_65dup	ENSP00000354710.6:p.Glu21_Asp22insGlu
ENST00000380839.9:c.258_260dup	ENSP00000370219.4:p.Glu86_Asp87insGlu
ENST00000395331.4:c.258_260dup	ENSP00000378740.3:p.Glu86_Asp87insGlu
ENST00000395332.8:c.258_260dup	ENSP00000378741.3:p.Glu86_Asp87insGlu
ENST00000671817.1:c.258_260dup	ENSP00000500462.1:p.Glu86_Asp87insGlu
ENST00000672498.1:c.258_260dup	ENSP00000500227.1:p.Glu86_Asp87insGlu
ENST00000672586.1:n.163_165dup
ENST00000672676.1:n.428_430dup
ENST00000673350.1:n.506_508dup
ENST00000673518.1:c.258_260dup	ENSP00000499889.1:p.Glu86_Asp87insGlu
ENST00000673594.1:n.107_109dup
ENST00000304874.13:c.258_260dup	ENSP00000307188.9:p.Glu86_Asp87insGlu
ENST00000362000.9:c.63_65dup	ENSP00000354710.5:p.Glu21_Asp22insGlu
ENST00000380839.8:c.258_260dup	ENSP00000370219.4:p.Glu86_Asp87insGlu
ENST00000395331.3:c.258_260dup	ENSP00000378740.3:p.Glu86_Asp87insGlu
ENST00000395332.7:c.258_260dup	ENSP00000378741.3:p.Glu86_Asp87insGlu
ENST00000487982.5:n.324_326dup
ENST00000496336.1:n.499_501dup
NM_000048.3:c.258_260dup	NP_000039.2:p.Glu86_Asp87insGlu
NM_001024943.1:c.258_260dup	NP_001020114.1:p.Glu86_Asp87insGlu
NM_001024944.1:c.258_260dup	NP_001020115.1:p.Glu86_Asp87insGlu
NM_001024946.1:c.258_260dup	NP_001020117.1:p.Glu86_Asp87insGlu
NM_000048.4:c.258_260dup MANE Select	NP_000039.2:p.Glu86_Asp87insGlu
NM_001024943.2:c.258_260dup	NP_001020114.1:p.Glu86_Asp87insGlu
NM_001024944.2:c.258_260dup	NP_001020115.1:p.Glu86_Asp87insGlu
NM_001024946.2:c.258_260dup	NP_001020117.1:p.Glu86_Asp87insGlu