Canonical Allele Identifier: CA159930871

Gene: ASL

Linked Data

• ClinVar Variation Id: 2885241
• ClinVar RCV Id: RCV003602875
• dbSNP Id: rs768427918
• gnomAD v2: 7-65551826-GC-G
• gnomAD v3: 7-66086839-GC-G
• gnomAD v4: 7-66086839-GC-G
• MyVariant Identifiers: chr7:g.65551827del (hg19) ; chr7:g.66086840del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086843del , CM000669.2:g.66086843del	GRCh38
NC_000007.13:g.65551830del , CM000669.1:g.65551830del	GRCh37
NC_000007.12:g.65189265del	NCBI36
NG_009288.1:g.16055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.602+22del MANE Select	ENSP00000307188.9:n.602+22del
ENST00000362000.10:c.407+22del	ENSP00000354710.6:n.407+22del
ENST00000380839.9:c.524+181del	ENSP00000370219.4:n.524+181del
ENST00000395331.4:c.602+22del	ENSP00000378740.3:n.602+22del
ENST00000395332.8:c.602+22del	ENSP00000378741.3:n.602+22del
ENST00000671817.1:c.524+181del	ENSP00000500462.1:n.524+181del
ENST00000672498.1:c.447-886del	ENSP00000500227.1:n.447-886del
ENST00000672586.1:n.529del
ENST00000672676.1:n.794del
ENST00000673149.1:n.414+22del
ENST00000673350.1:n.872del
ENST00000673518.1:c.524+181del	ENSP00000499889.1:n.524+181del
ENST00000673594.1:n.451+22del
ENST00000304874.13:c.602+22del	ENSP00000307188.9:n.602+22del
ENST00000362000.9:c.407+22del	ENSP00000354710.5:n.407+22del
ENST00000380839.8:c.524+181del	ENSP00000370219.4:n.524+181del
ENST00000395331.3:c.602+22del	ENSP00000378740.3:n.602+22del
ENST00000395332.7:c.602+22del	ENSP00000378741.3:n.602+22del
ENST00000487982.5:n.690del
NM_000048.3:c.602+22del	NP_000039.2:n.602+22del
NM_001024943.1:c.602+22del	NP_001020114.1:n.602+22del
NM_001024944.1:c.602+22del	NP_001020115.1:n.602+22del
NM_001024946.1:c.524+181del	NP_001020117.1:n.524+181del
NM_000048.4:c.602+22del MANE Select	NP_000039.2:n.602+22del
NM_001024943.2:c.602+22del	NP_001020114.1:n.602+22del
NM_001024944.2:c.602+22del	NP_001020115.1:n.602+22del
NM_001024946.2:c.524+181del	NP_001020117.1:n.524+181del