Canonical Allele Identifier: CA2683084966

Gene: ASL

Linked Data

• gnomAD v4: 7-66089275-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089276del , CM000669.2:g.66089276del	GRCh38
NC_000007.13:g.65554263del , CM000669.1:g.65554263del	GRCh37
NC_000007.12:g.65191698del	NCBI36
NG_009288.1:g.18488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.919del MANE Select	ENSP00000307188.9:p.Cys307ValfsTer5
ENST00000362000.10:c.724del	ENSP00000354710.6:p.Cys242ValfsTer5
ENST00000380839.9:c.841del	ENSP00000370219.4:p.Cys281ValfsTer5
ENST00000395331.4:c.918+101del	ENSP00000378740.3:n.918+101del
ENST00000395332.8:c.919del	ENSP00000378741.3:p.Cys307ValfsTer5
ENST00000488343.2:c.88del	ENSP00000500864.1:p.Cys30ValfsTer5
ENST00000671817.1:c.841del	ENSP00000500462.1:p.Cys281ValfsTer5
ENST00000672498.1:c.*218del	ENSP00000500227.1:n.*218del
ENST00000672586.1:n.1678del
ENST00000672676.1:n.1943del
ENST00000673149.1:n.731del
ENST00000673350.1:n.3036del
ENST00000673518.1:c.841del	ENSP00000499889.1:p.Cys281ValfsTer5
ENST00000304874.13:c.919del	ENSP00000307188.9:p.Cys307ValfsTer5
ENST00000380839.8:c.841del	ENSP00000370219.4:p.Cys281ValfsTer5
ENST00000395331.3:c.918+101del	ENSP00000378740.3:n.918+101del
ENST00000395332.7:c.919del	ENSP00000378741.3:p.Cys307ValfsTer5
ENST00000450043.2:c.232del	ENSP00000396527.2:p.Cys78ValfsTer5
ENST00000464970.1:n.38del
ENST00000488343.1:n.88del
ENST00000493708.5:n.400del
NM_000048.3:c.919del	NP_000039.2:p.Cys307ValfsTer5
NM_001024943.1:c.919del	NP_001020114.1:p.Cys307ValfsTer5
NM_001024944.1:c.918+101del	NP_001020115.1:n.918+101del
NM_001024946.1:c.841del	NP_001020117.1:p.Cys281ValfsTer5
NM_000048.4:c.919del MANE Select	NP_000039.2:p.Cys307ValfsTer5
NM_001024943.2:c.919del	NP_001020114.1:p.Cys307ValfsTer5
NM_001024944.2:c.918+101del	NP_001020115.1:n.918+101del
NM_001024946.2:c.841del	NP_001020117.1:p.Cys281ValfsTer5