Canonical Allele Identifier: CA2683084936

Gene: ASL

Linked Data

• gnomAD v4: 7-66089173-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089176del , CM000669.2:g.66089176del	GRCh38
NC_000007.13:g.65554163del , CM000669.1:g.65554163del	GRCh37
NC_000007.12:g.65191598del	NCBI36
NG_009288.1:g.18388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.918+1del
ENST00000362000.10:c.723+1del
ENST00000380839.9:c.840+1del
ENST00000395331.4:c.918+1del
ENST00000395332.8:c.918+1del
ENST00000488343.2:c.87+1del
ENST00000671817.1:c.840+1del
ENST00000672498.1:c.*217+1del
ENST00000672586.1:n.1677+1del
ENST00000672676.1:n.1942+1del
ENST00000673149.1:n.730+1del
ENST00000673350.1:n.3035+1del
ENST00000673518.1:c.840+1del
ENST00000304874.13:c.918+1del
ENST00000362000.9:c.724del	ENSP00000354710.5:p.Val242=
ENST00000380839.8:c.840+1del
ENST00000395331.3:c.918+1del
ENST00000395332.7:c.918+1del
ENST00000450043.2:c.231+1del
ENST00000488343.1:n.87+1del
ENST00000493708.5:n.300del
NM_000048.3:c.918+1del
NM_001024943.1:c.918+1del
NM_001024944.1:c.918+1del
NM_001024946.1:c.840+1del
NM_000048.4:c.918+1del
NM_001024943.2:c.918+1del
NM_001024944.2:c.918+1del
NM_001024946.2:c.840+1del