Canonical Allele Identifier: CA159933913

Gene: ASL

Linked Data

• dbSNP Id: rs1007427655
• gnomAD v2: 7-65554017-C-CA
• gnomAD v3: 7-66089030-C-CA
• gnomAD v4: 7-66089030-C-CA
• MyVariant Identifiers: chr7:g.65554017_65554018insA (hg19) ; chr7:g.66089030_66089031insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089031dup , CM000669.2:g.66089031dup	GRCh38
NC_000007.13:g.65554018dup , CM000669.1:g.65554018dup	GRCh37
NC_000007.12:g.65191453dup	NCBI36
NG_009288.1:g.18243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.834-60dup MANE Select	ENSP00000307188.9:n.834-60dup
ENST00000362000.10:c.639-60dup	ENSP00000354710.6:n.639-60dup
ENST00000380839.9:c.756-60dup	ENSP00000370219.4:n.756-60dup
ENST00000395331.4:c.834-60dup	ENSP00000378740.3:n.834-60dup
ENST00000395332.8:c.834-60dup	ENSP00000378741.3:n.834-60dup
ENST00000488343.2:c.3-60dup	ENSP00000500864.1:n.3-60dup
ENST00000671817.1:c.756-60dup	ENSP00000500462.1:n.756-60dup
ENST00000672498.1:c.*133-60dup	ENSP00000500227.1:n.*133-60dup
ENST00000672586.1:n.1593-60dup
ENST00000672676.1:n.1858-60dup
ENST00000673149.1:n.646-60dup
ENST00000673350.1:n.2951-60dup
ENST00000673518.1:c.756-60dup	ENSP00000499889.1:n.756-60dup
ENST00000304874.13:c.834-60dup	ENSP00000307188.9:n.834-60dup
ENST00000362000.9:c.639-60dup	ENSP00000354710.5:n.639-60dup
ENST00000380839.8:c.756-60dup	ENSP00000370219.4:n.756-60dup
ENST00000395331.3:c.834-60dup	ENSP00000378740.3:n.834-60dup
ENST00000395332.7:c.834-60dup	ENSP00000378741.3:n.834-60dup
ENST00000450043.2:c.147-60dup	ENSP00000396527.2:n.147-60dup
ENST00000493708.5:n.215-60dup
NM_000048.3:c.834-60dup	NP_000039.2:n.834-60dup
NM_001024943.1:c.834-60dup	NP_001020114.1:n.834-60dup
NM_001024944.1:c.834-60dup	NP_001020115.1:n.834-60dup
NM_001024946.1:c.756-60dup	NP_001020117.1:n.756-60dup
NM_000048.4:c.834-60dup MANE Select	NP_000039.2:n.834-60dup
NM_001024943.2:c.834-60dup	NP_001020114.1:n.834-60dup
NM_001024944.2:c.834-60dup	NP_001020115.1:n.834-60dup
NM_001024946.2:c.756-60dup	NP_001020117.1:n.756-60dup