Canonical Allele Identifier: CA2478166
Gene: ATXN7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.63912714_63912716del , CM000665.2:g.63912714_63912716del GRCh38
NC_000003.11:g.63898390_63898392del , CM000665.1:g.63898390_63898392del GRCh37
NC_000003.10:g.63873430_63873432del NCBI36
NG_008227.1:g.53158_53160del

Transcript Alleles

HGVS Amino-acid Change
ENST00000522345.2:c.116_118del ENSP00000428067.2:p.Gln39del
ENST00000674280.1:c.116_118del MANE Select ENSP00000501377.1:p.Gln39del
ENST00000295900.10:c.116_118del ENSP00000295900.6:p.Gln39del
ENST00000474112.5:n.669_671del
ENST00000487717.5:c.116_118del ENSP00000420234.1:p.Gln39del
ENST00000538065.5:c.116_118del ENSP00000439585.1:p.Gln39del
NM_000333.3:c.116_118del NP_000324.1:p.Gln39del
NM_001177387.1:c.116_118del NP_001170858.1:p.Gln39del
NM_000333.4:c.116_118del NP_000324.1:p.Gln39del
NM_001377405.1:c.116_118del MANE Select NP_001364334.1:p.Gln39del
NM_001377406.1:c.116_118del NP_001364335.1:p.Gln39del