Canonical Allele Identifier: CA4276974

Gene: ASL

Linked Data

• dbSNP Id: rs750613635
• ExAC: 7:65551583 TTC / T
• gnomAD v2: 7-65551583-TTC-T
• MyVariant Identifiers: chr7:g.65551584_65551585del (hg19) ; chr7:g.66086597_66086598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086600_66086601del , CM000669.2:g.66086600_66086601del	GRCh38
NC_000007.13:g.65551587_65551588del , CM000669.1:g.65551587_65551588del	GRCh37
NC_000007.12:g.65189022_65189023del	NCBI36
NG_009288.1:g.15812_15813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.462_463del MANE Select	ENSP00000307188.9:p.Phe155ProfsTer?
ENST00000362000.10:c.267_268del	ENSP00000354710.6:p.Phe90ProfsTer?
ENST00000380839.9:c.462_463del	ENSP00000370219.4:p.Phe155ProfsTer?
ENST00000395331.4:c.462_463del	ENSP00000378740.3:p.Phe155ProfsTer?
ENST00000395332.8:c.462_463del	ENSP00000378741.3:p.Phe155ProfsTer?
ENST00000671817.1:c.462_463del	ENSP00000500462.1:p.Phe155ProfsTer?
ENST00000672498.1:c.447-1129_447-1128del	ENSP00000500227.1:n.447-1129_447-1128del
ENST00000672586.1:n.367_368del
ENST00000672676.1:n.632_633del
ENST00000673149.1:n.274_275del
ENST00000673350.1:n.710_711del
ENST00000673518.1:c.462_463del	ENSP00000499889.1:p.Phe155ProfsTer?
ENST00000673594.1:n.311_312del
ENST00000304874.13:c.462_463del	ENSP00000307188.9:p.Phe155ProfsTer?
ENST00000362000.9:c.267_268del	ENSP00000354710.5:p.Phe90ProfsTer?
ENST00000380839.8:c.462_463del	ENSP00000370219.4:p.Phe155ProfsTer?
ENST00000395331.3:c.462_463del	ENSP00000378740.3:p.Phe155ProfsTer?
ENST00000395332.7:c.462_463del	ENSP00000378741.3:p.Phe155ProfsTer?
ENST00000487982.5:n.528_529del
NM_000048.3:c.462_463del	NP_000039.2:p.Phe155ProfsTer?
NM_001024943.1:c.462_463del	NP_001020114.1:p.Phe155ProfsTer?
NM_001024944.1:c.462_463del	NP_001020115.1:p.Phe155ProfsTer?
NM_001024946.1:c.462_463del	NP_001020117.1:p.Phe155ProfsTer?
NM_000048.4:c.462_463del MANE Select	NP_000039.2:p.Phe155ProfsTer?
NM_001024943.2:c.462_463del	NP_001020114.1:p.Phe155ProfsTer?
NM_001024944.2:c.462_463del	NP_001020115.1:p.Phe155ProfsTer?
NM_001024946.2:c.462_463del	NP_001020117.1:p.Phe155ProfsTer?