Canonical Allele Identifier: CA841269928

Gene: ASL

Linked Data

• ClinVar Variation Id: 2957312
• ClinVar RCV Id: RCV003818999
• dbSNP Id: rs1334258941
• MyVariant Identifiers: chr7:g.65552703_65552706del (hg19) ; chr7:g.66087716_66087719del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087719_66087722del , CM000669.2:g.66087719_66087722del	GRCh38
NC_000007.13:g.65552706_65552709del , CM000669.1:g.65552706_65552709del	GRCh37
NC_000007.12:g.65190141_65190144del	NCBI36
NG_009288.1:g.16931_16934del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.656-10_656-7del MANE Select	ENSP00000307188.9:n.656-10_656-7del
ENST00000362000.10:c.461-10_461-7del	ENSP00000354710.6:n.461-10_461-7del
ENST00000380839.9:c.578-10_578-7del	ENSP00000370219.4:n.578-10_578-7del
ENST00000395331.4:c.656-10_656-7del	ENSP00000378740.3:n.656-10_656-7del
ENST00000395332.8:c.656-10_656-7del	ENSP00000378741.3:n.656-10_656-7del
ENST00000671817.1:c.578-10_578-7del	ENSP00000500462.1:n.578-10_578-7del
ENST00000672498.1:c.447-10_447-7del	ENSP00000500227.1:n.447-10_447-7del
ENST00000672586.1:n.1405_1408del
ENST00000672676.1:n.1670_1673del
ENST00000673149.1:n.468-10_468-7del
ENST00000673350.1:n.1748_1751del
ENST00000673518.1:c.578-10_578-7del	ENSP00000499889.1:n.578-10_578-7del
ENST00000304874.13:c.656-10_656-7del	ENSP00000307188.9:n.656-10_656-7del
ENST00000362000.9:c.461-10_461-7del	ENSP00000354710.5:n.461-10_461-7del
ENST00000380839.8:c.578-10_578-7del	ENSP00000370219.4:n.578-10_578-7del
ENST00000395331.3:c.656-10_656-7del	ENSP00000378740.3:n.656-10_656-7del
ENST00000395332.7:c.656-10_656-7del	ENSP00000378741.3:n.656-10_656-7del
ENST00000493708.5:n.27_30del
NM_000048.3:c.656-10_656-7del	NP_000039.2:n.656-10_656-7del
NM_001024943.1:c.656-10_656-7del	NP_001020114.1:n.656-10_656-7del
NM_001024944.1:c.656-10_656-7del	NP_001020115.1:n.656-10_656-7del
NM_001024946.1:c.578-10_578-7del	NP_001020117.1:n.578-10_578-7del
NM_000048.4:c.656-10_656-7del MANE Select	NP_000039.2:n.656-10_656-7del
NM_001024943.2:c.656-10_656-7del	NP_001020114.1:n.656-10_656-7del
NM_001024944.2:c.656-10_656-7del	NP_001020115.1:n.656-10_656-7del
NM_001024946.2:c.578-10_578-7del	NP_001020117.1:n.578-10_578-7del