Canonical Allele Identifier: CA1612740147

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396012_16396017delinsTCAAAA , CM000668.2:g.16396012_16396017delinsTCAAAA	GRCh38
NC_000006.11:g.16396243_16396248delinsTCAAAA , CM000668.1:g.16396243_16396248delinsTCAAAA	GRCh37
NC_000006.10:g.16504222_16504227delinsTCAAAA	NCBI36
NG_011571.1:g.370474_370479delinsTTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67547_-160-67542delinsTTTTGA MANE Select	ENSP00000416360.1:n.-160-67547_-160-67542delinsTTTTGA
ENST00000244769.8:c.-160-67547_-160-67542delinsTTTTGA	ENSP00000244769.3:n.-160-67547_-160-67542delinsTTTTGA
ENST00000436367.5:c.-160-67547_-160-67542delinsTTTTGA	ENSP00000416360.1:n.-160-67547_-160-67542delinsTTTTGA
NM_000332.3:c.-160-67547_-160-67542delinsTTTTGA	NP_000323.2:n.-160-67547_-160-67542delinsTTTTGA
NM_001128164.1:c.-160-67547_-160-67542delinsTTTTGA	NP_001121636.1:n.-160-67547_-160-67542delinsTTTTGA
NM_001357857.1:c.-189-67547_-189-67542delinsTTTTGA	NP_001344786.1:n.-189-67547_-189-67542delinsTTTTGA
NM_001357857.2:c.-189-67547_-189-67542delinsTTTTGA	NP_001344786.1:n.-189-67547_-189-67542delinsTTTTGA
NM_001128164.2:c.-160-67547_-160-67542delinsTTTTGA MANE Select	NP_001121636.1:n.-160-67547_-160-67542delinsTTTTGA
NM_000332.4:c.-160-67547_-160-67542delinsTTTTGA	NP_000323.2:n.-160-67547_-160-67542delinsTTTTGA