Canonical Allele Identifier: CA2841513436

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089123dup , CM000669.2:g.66089123dup	GRCh38
NC_000007.13:g.65554110dup , CM000669.1:g.65554110dup	GRCh37
NC_000007.12:g.65191545dup	NCBI36
NG_009288.1:g.18335dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.866dup MANE Select	ENSP00000307188.9:p.Asn289LysfsTer?
ENST00000362000.10:c.671dup	ENSP00000354710.6:p.Asn224LysfsTer?
ENST00000380839.9:c.788dup	ENSP00000370219.4:p.Asn263LysfsTer?
ENST00000395331.4:c.866dup	ENSP00000378740.3:p.Asn289LysfsTer26
ENST00000395332.8:c.866dup	ENSP00000378741.3:p.Asn289LysfsTer?
ENST00000488343.2:c.35dup	ENSP00000500864.1:p.Asn12LysfsTer?
ENST00000671817.1:c.788dup	ENSP00000500462.1:p.Asn263LysfsTer?
ENST00000672498.1:c.*165dup	ENSP00000500227.1:n.*165dup
ENST00000672586.1:n.1625dup
ENST00000672676.1:n.1890dup
ENST00000673149.1:n.678dup
ENST00000673350.1:n.2983dup
ENST00000673518.1:c.788dup	ENSP00000499889.1:p.Asn263LysfsTer?
ENST00000304874.13:c.866dup	ENSP00000307188.9:p.Asn289LysfsTer?
ENST00000362000.9:c.671dup	ENSP00000354710.5:p.Asn224LysfsTer?
ENST00000380839.8:c.788dup	ENSP00000370219.4:p.Asn263LysfsTer?
ENST00000395331.3:c.866dup	ENSP00000378740.3:p.Asn289LysfsTer26
ENST00000395332.7:c.866dup	ENSP00000378741.3:p.Asn289LysfsTer?
ENST00000450043.2:c.179dup	ENSP00000396527.2:p.Asn60LysfsTer?
ENST00000488343.1:n.35dup
ENST00000493708.5:n.247dup
NM_000048.3:c.866dup	NP_000039.2:p.Asn289LysfsTer?
NM_001024943.1:c.866dup	NP_001020114.1:p.Asn289LysfsTer?
NM_001024944.1:c.866dup	NP_001020115.1:p.Asn289LysfsTer26
NM_001024946.1:c.788dup	NP_001020117.1:p.Asn263LysfsTer?
NM_000048.4:c.866dup MANE Select	NP_000039.2:p.Asn289LysfsTer?
NM_001024943.2:c.866dup	NP_001020114.1:p.Asn289LysfsTer?
NM_001024944.2:c.866dup	NP_001020115.1:p.Asn289LysfsTer26
NM_001024946.2:c.788dup	NP_001020117.1:p.Asn263LysfsTer?