Canonical Allele Identifier: CA1713939779

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082442_66082445delinsCCGC , CM000669.2:g.66082442_66082445delinsCCGC	GRCh38
NC_000007.13:g.65547429_65547432delinsCCGC , CM000669.1:g.65547429_65547432delinsCCGC	GRCh37
NC_000007.12:g.65184864_65184867delinsCCGC	NCBI36
NG_009288.1:g.11654_11657delinsCCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.282_285delinsCCGC MANE Select	ENSP00000307188.9:p.Arg94=
ENST00000362000.10:c.87_90delinsCCGC	ENSP00000354710.6:p.Arg29=
ENST00000380839.9:c.282_285delinsCCGC	ENSP00000370219.4:p.Arg94=
ENST00000395331.4:c.282_285delinsCCGC	ENSP00000378740.3:p.Arg94=
ENST00000395332.8:c.282_285delinsCCGC	ENSP00000378741.3:p.Arg94=
ENST00000671817.1:c.282_285delinsCCGC	ENSP00000500462.1:p.Arg94=
ENST00000672498.1:c.282_285delinsCCGC	ENSP00000500227.1:p.Arg94=
ENST00000672586.1:n.187_190delinsCCGC
ENST00000672676.1:n.452_455delinsCCGC
ENST00000673350.1:n.530_533delinsCCGC
ENST00000673518.1:c.282_285delinsCCGC	ENSP00000499889.1:p.Arg94=
ENST00000673594.1:n.131_134delinsCCGC
ENST00000304874.13:c.282_285delinsCCGC	ENSP00000307188.9:p.Arg94=
ENST00000362000.9:c.87_90delinsCCGC	ENSP00000354710.5:p.Arg29=
ENST00000380839.8:c.282_285delinsCCGC	ENSP00000370219.4:p.Arg94=
ENST00000395331.3:c.282_285delinsCCGC	ENSP00000378740.3:p.Arg94=
ENST00000395332.7:c.282_285delinsCCGC	ENSP00000378741.3:p.Arg94=
ENST00000487982.5:n.348_351delinsCCGC
ENST00000496336.1:n.523_526delinsCCGC
NM_000048.3:c.282_285delinsCCGC	NP_000039.2:p.Arg94=
NM_001024943.1:c.282_285delinsCCGC	NP_001020114.1:p.Arg94=
NM_001024944.1:c.282_285delinsCCGC	NP_001020115.1:p.Arg94=
NM_001024946.1:c.282_285delinsCCGC	NP_001020117.1:p.Arg94=
NM_000048.4:c.282_285delinsCCGC MANE Select	NP_000039.2:p.Arg94=
NM_001024943.2:c.282_285delinsCCGC	NP_001020114.1:p.Arg94=
NM_001024944.2:c.282_285delinsCCGC	NP_001020115.1:p.Arg94=
NM_001024946.2:c.282_285delinsCCGC	NP_001020117.1:p.Arg94=