Canonical Allele Identifier: CA2770126293

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396482_16396485del , CM000668.2:g.16396482_16396485del	GRCh38
NC_000006.11:g.16396713_16396716del , CM000668.1:g.16396713_16396716del	GRCh37
NC_000006.10:g.16504692_16504695del	NCBI36
NG_011571.1:g.370009_370012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-68012_-160-68009del MANE Select	ENSP00000416360.1:n.-160-68012_-160-68009del
ENST00000244769.8:c.-160-68012_-160-68009del	ENSP00000244769.3:n.-160-68012_-160-68009del
ENST00000436367.5:c.-160-68012_-160-68009del	ENSP00000416360.1:n.-160-68012_-160-68009del
NM_000332.3:c.-160-68012_-160-68009del	NP_000323.2:n.-160-68012_-160-68009del
NM_001128164.1:c.-160-68012_-160-68009del	NP_001121636.1:n.-160-68012_-160-68009del
NM_001357857.1:c.-189-68012_-189-68009del	NP_001344786.1:n.-189-68012_-189-68009del
NM_001357857.2:c.-189-68012_-189-68009del	NP_001344786.1:n.-189-68012_-189-68009del
NM_001128164.2:c.-160-68012_-160-68009del MANE Select	NP_001121636.1:n.-160-68012_-160-68009del
NM_000332.4:c.-160-68012_-160-68009del	NP_000323.2:n.-160-68012_-160-68009del