Canonical Allele Identifier: CA1612740155

Gene: ATXN1

Linked Data

• dbSNP Id: rs1758450174

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396013_16396017del , CM000668.2:g.16396013_16396017del	GRCh38
NC_000006.11:g.16396244_16396248del , CM000668.1:g.16396244_16396248del	GRCh37
NC_000006.10:g.16504223_16504227del	NCBI36
NG_011571.1:g.370474_370478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67547_-160-67543del MANE Select	ENSP00000416360.1:n.-160-67547_-160-67543del
ENST00000244769.8:c.-160-67547_-160-67543del	ENSP00000244769.3:n.-160-67547_-160-67543del
ENST00000436367.5:c.-160-67547_-160-67543del	ENSP00000416360.1:n.-160-67547_-160-67543del
NM_000332.3:c.-160-67547_-160-67543del	NP_000323.2:n.-160-67547_-160-67543del
NM_001128164.1:c.-160-67547_-160-67543del	NP_001121636.1:n.-160-67547_-160-67543del
NM_001357857.1:c.-189-67547_-189-67543del	NP_001344786.1:n.-189-67547_-189-67543del
NM_001357857.2:c.-189-67547_-189-67543del	NP_001344786.1:n.-189-67547_-189-67543del
NM_001128164.2:c.-160-67547_-160-67543del MANE Select	NP_001121636.1:n.-160-67547_-160-67543del
NM_000332.4:c.-160-67547_-160-67543del	NP_000323.2:n.-160-67547_-160-67543del