Canonical Allele Identifier: CA2985955001

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327678delinsCTGC , CM000668.2:g.16327678delinsCTGC	GRCh38
NC_000006.11:g.16327909delinsCTGC , CM000668.1:g.16327909delinsCTGC	GRCh37
NC_000006.10:g.16435888delinsCTGC	NCBI36
NG_011571.1:g.438813delinsGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.633delinsGCAG MANE Select	ENSP00000416360.1:p.His211delinsGlnGln
ENST00000244769.8:c.633delinsGCAG	ENSP00000244769.3:p.His211delinsGlnGln
ENST00000436367.5:c.633delinsGCAG	ENSP00000416360.1:p.His211delinsGlnGln
NM_000332.3:c.633delinsGCAG	NP_000323.2:p.His211delinsGlnGln
NM_001128164.1:c.633delinsGCAG	NP_001121636.1:p.His211delinsGlnGln
NM_001357857.1:c.*46delinsGCAG	NP_001344786.1:n.*46delinsGCAG
NM_001357857.2:c.*46delinsGCAG	NP_001344786.1:n.*46delinsGCAG
NM_001128164.2:c.633delinsGCAG MANE Select	NP_001121636.1:p.His211delinsGlnGln
NM_000332.4:c.633delinsGCAG	NP_000323.2:p.His211delinsGlnGln