Canonical Allele Identifier: CA909249508

Gene: ATXN7

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.63912710_63912711insCGCCGC , CM000665.2:g.63912710_63912711insCGCCGC	GRCh38
NC_000003.11:g.63898386_63898387insCGCCGC , CM000665.1:g.63898386_63898387insCGCCGC	GRCh37
NC_000003.10:g.63873426_63873427insCGCCGC	NCBI36
NG_008227.1:g.53154_53155insCGCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522345.2:c.112_113insCGCCGC	ENSP00000428067.2:p.Gln37_Gln38insProPro
ENST00000674280.1:c.112_113insCGCCGC MANE Select	ENSP00000501377.1:p.Gln37_Gln38insProPro
ENST00000295900.10:c.112_113insCGCCGC	ENSP00000295900.6:p.Gln37_Gln38insProPro
ENST00000474112.5:n.665_666insCGCCGC
ENST00000487717.5:c.112_113insCGCCGC	ENSP00000420234.1:p.Gln37_Gln38insProPro
ENST00000538065.5:c.112_113insCGCCGC	ENSP00000439585.1:p.Gln37_Gln38insProPro
NM_000333.3:c.112_113insCGCCGC	NP_000324.1:p.Gln37_Gln38insProPro
NM_001177387.1:c.112_113insCGCCGC	NP_001170858.1:p.Gln37_Gln38insProPro
NM_000333.4:c.112_113insCGCCGC	NP_000324.1:p.Gln37_Gln38insProPro
NM_001377405.1:c.112_113insCGCCGC MANE Select	NP_001364334.1:p.Gln37_Gln38insProPro
NM_001377406.1:c.112_113insCGCCGC	NP_001364335.1:p.Gln37_Gln38insProPro