Canonical Allele Identifier: CA1612705664

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396601_16396602delinsTA , CM000668.2:g.16396601_16396602delinsTA	GRCh38
NC_000006.11:g.16396832_16396833delinsTA , CM000668.1:g.16396832_16396833delinsTA	GRCh37
NC_000006.10:g.16504811_16504812delinsTA	NCBI36
NG_011571.1:g.369889_369890delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-68132_-160-68131delinsTA MANE Select	ENSP00000416360.1:n.-160-68132_-160-68131delinsTA
ENST00000244769.8:c.-160-68132_-160-68131delinsTA	ENSP00000244769.3:n.-160-68132_-160-68131delinsTA
ENST00000436367.5:c.-160-68132_-160-68131delinsTA	ENSP00000416360.1:n.-160-68132_-160-68131delinsTA
NM_000332.3:c.-160-68132_-160-68131delinsTA	NP_000323.2:n.-160-68132_-160-68131delinsTA
NM_001128164.1:c.-160-68132_-160-68131delinsTA	NP_001121636.1:n.-160-68132_-160-68131delinsTA
NM_001357857.1:c.-189-68132_-189-68131delinsTA	NP_001344786.1:n.-189-68132_-189-68131delinsTA
NM_001357857.2:c.-189-68132_-189-68131delinsTA	NP_001344786.1:n.-189-68132_-189-68131delinsTA
NM_001128164.2:c.-160-68132_-160-68131delinsTA MANE Select	NP_001121636.1:n.-160-68132_-160-68131delinsTA
NM_000332.4:c.-160-68132_-160-68131delinsTA	NP_000323.2:n.-160-68132_-160-68131delinsTA