Canonical Allele Identifier: CA1086369001

Gene: ATXN1

Linked Data

• dbSNP Id: rs1758453683
• gnomAD v3: 6-16396103-T-TATC
• gnomAD v4: 6-16396103-T-TATC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396107_16396109dup , CM000668.2:g.16396107_16396109dup	GRCh38
NC_000006.11:g.16396338_16396340dup , CM000668.1:g.16396338_16396340dup	GRCh37
NC_000006.10:g.16504317_16504319dup	NCBI36
NG_011571.1:g.370385_370387dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67636_-160-67634dup MANE Select	ENSP00000416360.1:n.-160-67636_-160-67634dup
ENST00000244769.8:c.-160-67636_-160-67634dup	ENSP00000244769.3:n.-160-67636_-160-67634dup
ENST00000436367.5:c.-160-67636_-160-67634dup	ENSP00000416360.1:n.-160-67636_-160-67634dup
NM_000332.3:c.-160-67636_-160-67634dup	NP_000323.2:n.-160-67636_-160-67634dup
NM_001128164.1:c.-160-67636_-160-67634dup	NP_001121636.1:n.-160-67636_-160-67634dup
NM_001357857.1:c.-189-67636_-189-67634dup	NP_001344786.1:n.-189-67636_-189-67634dup
NM_001357857.2:c.-189-67636_-189-67634dup	NP_001344786.1:n.-189-67636_-189-67634dup
NM_001128164.2:c.-160-67636_-160-67634dup MANE Select	NP_001121636.1:n.-160-67636_-160-67634dup
NM_000332.4:c.-160-67636_-160-67634dup	NP_000323.2:n.-160-67636_-160-67634dup