Canonical Allele Identifier: CA821903417

Gene: ATXN1

Linked Data

• dbSNP Id: rs1294294854
• MyVariant Identifiers: chr6:g.16396764_16396765insT (hg19) ; chr6:g.16396533_16396534insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396535dup , CM000668.2:g.16396535dup	GRCh38
NC_000006.11:g.16396766dup , CM000668.1:g.16396766dup	GRCh37
NC_000006.10:g.16504745dup	NCBI36
NG_011571.1:g.369957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-68064dup MANE Select	ENSP00000416360.1:n.-160-68064dup
ENST00000244769.8:c.-160-68064dup	ENSP00000244769.3:n.-160-68064dup
ENST00000436367.5:c.-160-68064dup	ENSP00000416360.1:n.-160-68064dup
NM_000332.3:c.-160-68064dup	NP_000323.2:n.-160-68064dup
NM_001128164.1:c.-160-68064dup	NP_001121636.1:n.-160-68064dup
NM_001357857.1:c.-189-68064dup	NP_001344786.1:n.-189-68064dup
NM_001357857.2:c.-189-68064dup	NP_001344786.1:n.-189-68064dup
NM_001128164.2:c.-160-68064dup MANE Select	NP_001121636.1:n.-160-68064dup
NM_000332.4:c.-160-68064dup	NP_000323.2:n.-160-68064dup