Canonical Allele Identifier: CA2683084968

Gene: ASL

Linked Data

• gnomAD v4: 7-66086820-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086822del , CM000669.2:g.66086822del	GRCh38
NC_000007.13:g.65551809del , CM000669.1:g.65551809del	GRCh37
NC_000007.12:g.65189244del	NCBI36
NG_009288.1:g.16034del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.602+1del
ENST00000362000.10:c.407+1del
ENST00000380839.9:c.524+160del	ENSP00000370219.4:n.524+160del
ENST00000395331.4:c.602+1del
ENST00000395332.8:c.602+1del
ENST00000671817.1:c.524+160del	ENSP00000500462.1:n.524+160del
ENST00000672498.1:c.447-907del	ENSP00000500227.1:n.447-907del
ENST00000672586.1:n.508del
ENST00000672676.1:n.773del
ENST00000673149.1:n.414+1del
ENST00000673350.1:n.851del
ENST00000673518.1:c.524+160del	ENSP00000499889.1:n.524+160del
ENST00000673594.1:n.451+1del
ENST00000304874.13:c.602+1del
ENST00000362000.9:c.407+1del
ENST00000380839.8:c.524+160del	ENSP00000370219.4:n.524+160del
ENST00000395331.3:c.602+1del
ENST00000395332.7:c.602+1del
ENST00000487982.5:n.669del
NM_000048.3:c.602+1del
NM_001024943.1:c.602+1del
NM_001024944.1:c.602+1del
NM_001024946.1:c.524+160del	NP_001020117.1:n.524+160del
NM_000048.4:c.602+1del
NM_001024943.2:c.602+1del
NM_001024944.2:c.602+1del
NM_001024946.2:c.524+160del	NP_001020117.1:n.524+160del