Canonical Allele Identifier: CA4277085

Gene: ASL

Linked Data

• ClinVar Variation Id: 1168791
• ClinVar RCV Id: RCV001519305
• dbSNP Id: rs778811159
• ExAC: 7:65552706 A / AC
• gnomAD v2: 7-65552706-A-AC
• gnomAD v3: 7-66087719-A-AC
• gnomAD v4: 7-66087719-A-AC
• MyVariant Identifiers: chr7:g.65552707_65552708insC (hg19) ; chr7:g.65552706_65552707insC (hg19) ; chr7:g.66087720_66087721insC (hg38) ; chr7:g.66087719_66087720insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087726dup , CM000669.2:g.66087726dup	GRCh38
NC_000007.13:g.65552713dup , CM000669.1:g.65552713dup	GRCh37
NC_000007.12:g.65190148dup	NCBI36
NG_009288.1:g.16938dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.656-3dup MANE Select	ENSP00000307188.9:n.656-3dup
ENST00000362000.10:c.461-3dup	ENSP00000354710.6:n.461-3dup
ENST00000380839.9:c.578-3dup	ENSP00000370219.4:n.578-3dup
ENST00000395331.4:c.656-3dup	ENSP00000378740.3:n.656-3dup
ENST00000395332.8:c.656-3dup	ENSP00000378741.3:n.656-3dup
ENST00000671817.1:c.578-3dup	ENSP00000500462.1:n.578-3dup
ENST00000672498.1:c.447-3dup	ENSP00000500227.1:n.447-3dup
ENST00000672586.1:n.1412dup
ENST00000672676.1:n.1677dup
ENST00000673149.1:n.468-3dup
ENST00000673350.1:n.1755dup
ENST00000673518.1:c.578-3dup	ENSP00000499889.1:n.578-3dup
ENST00000304874.13:c.656-3dup	ENSP00000307188.9:n.656-3dup
ENST00000362000.9:c.461-3dup	ENSP00000354710.5:n.461-3dup
ENST00000380839.8:c.578-3dup	ENSP00000370219.4:n.578-3dup
ENST00000395331.3:c.656-3dup	ENSP00000378740.3:n.656-3dup
ENST00000395332.7:c.656-3dup	ENSP00000378741.3:n.656-3dup
ENST00000493708.5:n.34dup
NM_000048.3:c.656-3dup	NP_000039.2:n.656-3dup
NM_001024943.1:c.656-3dup	NP_001020114.1:n.656-3dup
NM_001024944.1:c.656-3dup	NP_001020115.1:n.656-3dup
NM_001024946.1:c.578-3dup	NP_001020117.1:n.578-3dup
NM_000048.4:c.656-3dup MANE Select	NP_000039.2:n.656-3dup
NM_001024943.2:c.656-3dup	NP_001020114.1:n.656-3dup
NM_001024944.2:c.656-3dup	NP_001020115.1:n.656-3dup
NM_001024946.2:c.578-3dup	NP_001020117.1:n.578-3dup