Canonical Allele Identifier: CA3645517

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327672_16327677dup , CM000668.2:g.16327672_16327677dup	GRCh38
NC_000006.11:g.16327903_16327908dup , CM000668.1:g.16327903_16327908dup	GRCh37
NC_000006.10:g.16435882_16435887dup	NCBI36
NG_011571.1:g.438852_438857dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001128164.2:c.672_677dup MANE Select	NP_001121636.1:p.Gln225_His226insGlnGln
ENST00000436367.6:c.672_677dup MANE Select	ENSP00000416360.1:p.Gln225_His226insGlnGln
NM_000332.3:c.672_677dup	NP_000323.2:p.Gln225_His226insGlnGln
NM_000332.4:c.672_677dup	NP_000323.2:p.Gln225_His226insGlnGln
NM_001128164.1:c.672_677dup	NP_001121636.1:p.Gln225_His226insGlnGln
NM_001357857.1:c.*85_*90dup	NP_001344786.1:n.*85_*90dup
NM_001357857.2:c.*85_*90dup	NP_001344786.1:n.*85_*90dup
ENST00000244769.8:c.672_677dup	ENSP00000244769.3:p.Gln225_His226insGlnGln
ENST00000436367.5:c.672_677dup	ENSP00000416360.1:p.Gln225_His226insGlnGln