Canonical Allele Identifier: CA209026

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327722_16327724del , CM000668.2:g.16327722_16327724del	GRCh38
NC_000006.11:g.16327953_16327955del , CM000668.1:g.16327953_16327955del	GRCh37
NC_000006.10:g.16435932_16435934del	NCBI36
NG_011571.1:g.438804_438806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.624_626del MANE Select	ENSP00000416360.1:p.Gln208del
ENST00000244769.8:c.624_626del	ENSP00000244769.3:p.Gln208del
ENST00000436367.5:c.624_626del	ENSP00000416360.1:p.Gln208del
NM_000332.3:c.624_626del	NP_000323.2:p.Gln208del
NM_001128164.1:c.624_626del	NP_001121636.1:p.Gln208del
NM_001357857.1:c.*37_*39del	NP_001344786.1:n.*37_*39del
NM_001357857.2:c.*37_*39del	NP_001344786.1:n.*37_*39del
NM_001128164.2:c.624_626del MANE Select	NP_001121636.1:p.Gln208del
NM_000332.4:c.624_626del	NP_000323.2:p.Gln208del