Canonical Allele Identifier: CA2683084935

Gene: ASL

Linked Data

• gnomAD v4: 7-66089157-T-TGGGCGTGTGTTTGGGCGGGTGAGCAAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089161_66089190dup , CM000669.2:g.66089161_66089190dup	GRCh38
NC_000007.13:g.65554148_65554177dup , CM000669.1:g.65554148_65554177dup	GRCh37
NC_000007.12:g.65191583_65191612dup	NCBI36
NG_009288.1:g.18373_18402dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.904_918+15dup
ENST00000362000.10:c.709_723+15dup
ENST00000380839.9:c.826_840+15dup
ENST00000395331.4:c.904_918+15dup
ENST00000395332.8:c.904_918+15dup
ENST00000488343.2:c.73_87+15dup
ENST00000671817.1:c.826_840+15dup
ENST00000672498.1:c.*203_*217+15dup
ENST00000672586.1:n.1663_1677+15dup
ENST00000672676.1:n.1928_1942+15dup
ENST00000673149.1:n.716_730+15dup
ENST00000673350.1:n.3021_3035+15dup
ENST00000673518.1:c.826_840+15dup
ENST00000304874.13:c.904_918+15dup
ENST00000380839.8:c.826_840+15dup
ENST00000395331.3:c.904_918+15dup
ENST00000395332.7:c.904_918+15dup
ENST00000450043.2:c.217_231+15dup
ENST00000488343.1:n.73_87+15dup
ENST00000493708.5:n.285_314dup
NM_000048.3:c.904_918+15dup
NM_001024943.1:c.904_918+15dup
NM_001024944.1:c.904_918+15dup
NM_001024946.1:c.826_840+15dup
NM_000048.4:c.904_918+15dup
NM_001024943.2:c.904_918+15dup
NM_001024944.2:c.904_918+15dup
NM_001024946.2:c.826_840+15dup