Canonical Allele Identifier: CA2695207752

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089096del , CM000669.2:g.66089096del	GRCh38
NC_000007.13:g.65554083del , CM000669.1:g.65554083del	GRCh37
NC_000007.12:g.65191518del	NCBI36
NG_009288.1:g.18308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.839del MANE Select	ENSP00000307188.9:p.Gly280GlufsTer4
ENST00000362000.10:c.644del	ENSP00000354710.6:p.Gly215GlufsTer4
ENST00000380839.9:c.761del	ENSP00000370219.4:p.Gly254GlufsTer4
ENST00000395331.4:c.839del	ENSP00000378740.3:p.Gly280GlufsTer4
ENST00000395332.8:c.839del	ENSP00000378741.3:p.Gly280GlufsTer4
ENST00000488343.2:c.8del	ENSP00000500864.1:p.Gly3GlufsTer4
ENST00000671817.1:c.761del	ENSP00000500462.1:p.Gly254GlufsTer4
ENST00000672498.1:c.*138del	ENSP00000500227.1:n.*138del
ENST00000672586.1:n.1598del
ENST00000672676.1:n.1863del
ENST00000673149.1:n.651del
ENST00000673350.1:n.2956del
ENST00000673518.1:c.761del	ENSP00000499889.1:p.Gly254GlufsTer4
ENST00000304874.13:c.839del	ENSP00000307188.9:p.Gly280GlufsTer4
ENST00000362000.9:c.644del	ENSP00000354710.5:p.Gly215GlufsTer4
ENST00000380839.8:c.761del	ENSP00000370219.4:p.Gly254GlufsTer4
ENST00000395331.3:c.839del	ENSP00000378740.3:p.Gly280GlufsTer4
ENST00000395332.7:c.839del	ENSP00000378741.3:p.Gly280GlufsTer4
ENST00000450043.2:c.152del	ENSP00000396527.2:p.Gly51GlufsTer4
ENST00000488343.1:n.8del
ENST00000493708.5:n.220del
NM_000048.3:c.839del	NP_000039.2:p.Gly280GlufsTer4
NM_001024943.1:c.839del	NP_001020114.1:p.Gly280GlufsTer4
NM_001024944.1:c.839del	NP_001020115.1:p.Gly280GlufsTer4
NM_001024946.1:c.761del	NP_001020117.1:p.Gly254GlufsTer4
NM_000048.4:c.839del MANE Select	NP_000039.2:p.Gly280GlufsTer4
NM_001024943.2:c.839del	NP_001020114.1:p.Gly280GlufsTer4
NM_001024944.2:c.839del	NP_001020115.1:p.Gly280GlufsTer4
NM_001024946.2:c.761del	NP_001020117.1:p.Gly254GlufsTer4