Canonical Allele Identifier: CA2985954739

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327521dup , CM000668.2:g.16327521dup	GRCh38
NC_000006.11:g.16327752dup , CM000668.1:g.16327752dup	GRCh37
NC_000006.10:g.16435731dup	NCBI36
NG_011571.1:g.438971dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001128164.2:c.791dup MANE Select	NP_001121636.1:p.Ala265GlyfsTer?
ENST00000436367.6:c.791dup MANE Select	ENSP00000416360.1:p.Ala265GlyfsTer?
NM_000332.3:c.791dup	NP_000323.2:p.Ala265GlyfsTer?
NM_000332.4:c.791dup	NP_000323.2:p.Ala265GlyfsTer?
NM_001128164.1:c.791dup	NP_001121636.1:p.Ala265GlyfsTer?
NM_001357857.1:c.*204dup	NP_001344786.1:n.*204dup
NM_001357857.2:c.*204dup	NP_001344786.1:n.*204dup
ENST00000244769.8:c.791dup	ENSP00000244769.3:p.Ala265GlyfsTer?
ENST00000436367.5:c.791dup	ENSP00000416360.1:p.Ala265GlyfsTer?