Canonical Allele Identifier: CA2578899815

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082377_66082379del , CM000669.2:g.66082377_66082379del	GRCh38
NC_000007.13:g.65547364_65547366del , CM000669.1:g.65547364_65547366del	GRCh37
NC_000007.12:g.65184799_65184801del	NCBI36
NG_009288.1:g.11589_11591del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.217_219del MANE Select	ENSP00000307188.9:p.Glu73del
ENST00000362000.10:c.22_24del	ENSP00000354710.6:p.Glu8del
ENST00000380839.9:c.217_219del	ENSP00000370219.4:p.Glu73del
ENST00000395331.4:c.217_219del	ENSP00000378740.3:p.Glu73del
ENST00000395332.8:c.217_219del	ENSP00000378741.3:p.Glu73del
ENST00000671817.1:c.217_219del	ENSP00000500462.1:p.Glu73del
ENST00000672498.1:c.217_219del	ENSP00000500227.1:p.Glu73del
ENST00000672586.1:n.122_124del
ENST00000672676.1:n.387_389del
ENST00000673350.1:n.465_467del
ENST00000673518.1:c.217_219del	ENSP00000499889.1:p.Glu73del
ENST00000673594.1:n.66_68del
ENST00000304874.13:c.217_219del	ENSP00000307188.9:p.Glu73del
ENST00000362000.9:c.22_24del	ENSP00000354710.5:p.Glu8del
ENST00000380839.8:c.217_219del	ENSP00000370219.4:p.Glu73del
ENST00000395331.3:c.217_219del	ENSP00000378740.3:p.Glu73del
ENST00000395332.7:c.217_219del	ENSP00000378741.3:p.Glu73del
ENST00000487982.5:n.283_285del
ENST00000496336.1:n.458_460del
NM_000048.3:c.217_219del	NP_000039.2:p.Glu73del
NM_001024943.1:c.217_219del	NP_001020114.1:p.Glu73del
NM_001024944.1:c.217_219del	NP_001020115.1:p.Glu73del
NM_001024946.1:c.217_219del	NP_001020117.1:p.Glu73del
NM_000048.4:c.217_219del MANE Select	NP_000039.2:p.Glu73del
NM_001024943.2:c.217_219del	NP_001020114.1:p.Glu73del
NM_001024944.2:c.217_219del	NP_001020115.1:p.Glu73del
NM_001024946.2:c.217_219del	NP_001020117.1:p.Glu73del