Canonical Allele Identifier: CA1612705363

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396402_16396403delinsAG , CM000668.2:g.16396402_16396403delinsAG	GRCh38
NC_000006.11:g.16396633_16396634delinsAG , CM000668.1:g.16396633_16396634delinsAG	GRCh37
NC_000006.10:g.16504612_16504613delinsAG	NCBI36
NG_011571.1:g.370088_370089delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67933_-160-67932delinsCT MANE Select	ENSP00000416360.1:n.-160-67933_-160-67932delinsCT
ENST00000244769.8:c.-160-67933_-160-67932delinsCT	ENSP00000244769.3:n.-160-67933_-160-67932delinsCT
ENST00000436367.5:c.-160-67933_-160-67932delinsCT	ENSP00000416360.1:n.-160-67933_-160-67932delinsCT
NM_000332.3:c.-160-67933_-160-67932delinsCT	NP_000323.2:n.-160-67933_-160-67932delinsCT
NM_001128164.1:c.-160-67933_-160-67932delinsCT	NP_001121636.1:n.-160-67933_-160-67932delinsCT
NM_001357857.1:c.-189-67933_-189-67932delinsCT	NP_001344786.1:n.-189-67933_-189-67932delinsCT
NM_001357857.2:c.-189-67933_-189-67932delinsCT	NP_001344786.1:n.-189-67933_-189-67932delinsCT
NM_001128164.2:c.-160-67933_-160-67932delinsCT MANE Select	NP_001121636.1:n.-160-67933_-160-67932delinsCT
NM_000332.4:c.-160-67933_-160-67932delinsCT	NP_000323.2:n.-160-67933_-160-67932delinsCT