Canonical Allele Identifier: CA1612705724

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396663_16396664delinsTG , CM000668.2:g.16396663_16396664delinsTG	GRCh38
NC_000006.11:g.16396894_16396895delinsTG , CM000668.1:g.16396894_16396895delinsTG	GRCh37
NC_000006.10:g.16504873_16504874delinsTG	NCBI36
NG_011571.1:g.369827_369828delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-68194_-160-68193delinsCA MANE Select	ENSP00000416360.1:n.-160-68194_-160-68193delinsCA
ENST00000244769.8:c.-160-68194_-160-68193delinsCA	ENSP00000244769.3:n.-160-68194_-160-68193delinsCA
ENST00000436367.5:c.-160-68194_-160-68193delinsCA	ENSP00000416360.1:n.-160-68194_-160-68193delinsCA
NM_000332.3:c.-160-68194_-160-68193delinsCA	NP_000323.2:n.-160-68194_-160-68193delinsCA
NM_001128164.1:c.-160-68194_-160-68193delinsCA	NP_001121636.1:n.-160-68194_-160-68193delinsCA
NM_001357857.1:c.-189-68194_-189-68193delinsCA	NP_001344786.1:n.-189-68194_-189-68193delinsCA
NM_001357857.2:c.-189-68194_-189-68193delinsCA	NP_001344786.1:n.-189-68194_-189-68193delinsCA
NM_001128164.2:c.-160-68194_-160-68193delinsCA MANE Select	NP_001121636.1:n.-160-68194_-160-68193delinsCA
NM_000332.4:c.-160-68194_-160-68193delinsCA	NP_000323.2:n.-160-68194_-160-68193delinsCA