Canonical Allele Identifier: CA2683084914

Gene: ASL

Linked Data

• gnomAD v4: 7-66086639-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086641_66086642del , CM000669.2:g.66086641_66086642del	GRCh38
NC_000007.13:g.65551628_65551629del , CM000669.1:g.65551628_65551629del	GRCh37
NC_000007.12:g.65189063_65189064del	NCBI36
NG_009288.1:g.15853_15854del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.503_504del MANE Select	ENSP00000307188.9:p.Arg168LeufsTer17
ENST00000362000.10:c.308_309del	ENSP00000354710.6:p.Arg103LeufsTer17
ENST00000380839.9:c.503_504del	ENSP00000370219.4:p.Arg168LeufsTer?
ENST00000395331.4:c.503_504del	ENSP00000378740.3:p.Arg168LeufsTer17
ENST00000395332.8:c.503_504del	ENSP00000378741.3:p.Arg168LeufsTer17
ENST00000671817.1:c.503_504del	ENSP00000500462.1:p.Arg168LeufsTer?
ENST00000672498.1:c.447-1088_447-1087del	ENSP00000500227.1:n.447-1088_447-1087del
ENST00000672586.1:n.408_409del
ENST00000672676.1:n.673_674del
ENST00000673149.1:n.315_316del
ENST00000673350.1:n.751_752del
ENST00000673518.1:c.503_504del	ENSP00000499889.1:p.Arg168LeufsTer?
ENST00000673594.1:n.352_353del
ENST00000304874.13:c.503_504del	ENSP00000307188.9:p.Arg168LeufsTer17
ENST00000362000.9:c.308_309del	ENSP00000354710.5:p.Arg103LeufsTer17
ENST00000380839.8:c.503_504del	ENSP00000370219.4:p.Arg168LeufsTer?
ENST00000395331.3:c.503_504del	ENSP00000378740.3:p.Arg168LeufsTer17
ENST00000395332.7:c.503_504del	ENSP00000378741.3:p.Arg168LeufsTer17
ENST00000487982.5:n.569_570del
NM_000048.3:c.503_504del	NP_000039.2:p.Arg168LeufsTer17
NM_001024943.1:c.503_504del	NP_001020114.1:p.Arg168LeufsTer17
NM_001024944.1:c.503_504del	NP_001020115.1:p.Arg168LeufsTer17
NM_001024946.1:c.503_504del	NP_001020117.1:p.Arg168LeufsTer?
NM_000048.4:c.503_504del MANE Select	NP_000039.2:p.Arg168LeufsTer17
NM_001024943.2:c.503_504del	NP_001020114.1:p.Arg168LeufsTer17
NM_001024944.2:c.503_504del	NP_001020115.1:p.Arg168LeufsTer17
NM_001024946.2:c.503_504del	NP_001020117.1:p.Arg168LeufsTer?