Canonical Allele Identifier: CA1612740269

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396226_16396228delinsATG , CM000668.2:g.16396226_16396228delinsATG	GRCh38
NC_000006.11:g.16396457_16396459delinsATG , CM000668.1:g.16396457_16396459delinsATG	GRCh37
NC_000006.10:g.16504436_16504438delinsATG	NCBI36
NG_011571.1:g.370263_370265delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67758_-160-67756delinsCAT MANE Select	ENSP00000416360.1:n.-160-67758_-160-67756delinsCAT
ENST00000244769.8:c.-160-67758_-160-67756delinsCAT	ENSP00000244769.3:n.-160-67758_-160-67756delinsCAT
ENST00000436367.5:c.-160-67758_-160-67756delinsCAT	ENSP00000416360.1:n.-160-67758_-160-67756delinsCAT
NM_000332.3:c.-160-67758_-160-67756delinsCAT	NP_000323.2:n.-160-67758_-160-67756delinsCAT
NM_001128164.1:c.-160-67758_-160-67756delinsCAT	NP_001121636.1:n.-160-67758_-160-67756delinsCAT
NM_001357857.1:c.-189-67758_-189-67756delinsCAT	NP_001344786.1:n.-189-67758_-189-67756delinsCAT
NM_001357857.2:c.-189-67758_-189-67756delinsCAT	NP_001344786.1:n.-189-67758_-189-67756delinsCAT
NM_001128164.2:c.-160-67758_-160-67756delinsCAT MANE Select	NP_001121636.1:n.-160-67758_-160-67756delinsCAT
NM_000332.4:c.-160-67758_-160-67756delinsCAT	NP_000323.2:n.-160-67758_-160-67756delinsCAT