Canonical Allele Identifier: CA1612705172

Gene: ATXN1

Linked Data

• dbSNP Id: rs61455187

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396271_16396272insAC , CM000668.2:g.16396271_16396272insAC	GRCh38
NC_000006.11:g.16396502_16396503insAC , CM000668.1:g.16396502_16396503insAC	GRCh37
NC_000006.10:g.16504481_16504482insAC	NCBI36
NG_011571.1:g.370219_370220insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67802_-160-67801insGT MANE Select	ENSP00000416360.1:n.-160-67802_-160-67801insGT
ENST00000244769.8:c.-160-67802_-160-67801insGT	ENSP00000244769.3:n.-160-67802_-160-67801insGT
ENST00000436367.5:c.-160-67802_-160-67801insGT	ENSP00000416360.1:n.-160-67802_-160-67801insGT
NM_000332.3:c.-160-67802_-160-67801insGT	NP_000323.2:n.-160-67802_-160-67801insGT
NM_001128164.1:c.-160-67802_-160-67801insGT	NP_001121636.1:n.-160-67802_-160-67801insGT
NM_001357857.1:c.-189-67802_-189-67801insGT	NP_001344786.1:n.-189-67802_-189-67801insGT
NM_001357857.2:c.-189-67802_-189-67801insGT	NP_001344786.1:n.-189-67802_-189-67801insGT
NM_001128164.2:c.-160-67802_-160-67801insGT MANE Select	NP_001121636.1:n.-160-67802_-160-67801insGT
NM_000332.4:c.-160-67802_-160-67801insGT	NP_000323.2:n.-160-67802_-160-67801insGT