Canonical Allele Identifier: CA358804
Gene: NUDT15 HGNC NCBI
SUCLA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037796_48037801dup , CM000675.2:g.48037796_48037801dup GRCh38
NC_000013.10:g.48611932_48611937dup , CM000675.1:g.48611932_48611937dup GRCh37
NC_000013.9:g.47509933_47509938dup NCBI36
NG_047021.1:g.5230_5235dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.50_55dup (NUDT15) MANE Select ENSP00000258662.1:p.Val18_Val19insGlyVal
ENST00000643246.1:c.-345_-340dup (SUCLA2) ENSP00000496235.1:n.-345_-340dup
ENST00000646804.1:c.-267_-262dup (SUCLA2) ENSP00000493977.1:n.-267_-262dup
ENST00000258662.2:c.50_55dup (NUDT15) ENSP00000258662.1:p.Val18_Val19insGlyVal
NM_001304745.1:c.50_55dup (NUDT15) NP_001291674.1:p.Val18_Val19insGlyVal
NM_018283.2:c.50_55dup (NUDT15) NP_060753.1:p.Val18_Val19insGlyVal
NM_018283.3:c.50_55dup (NUDT15) NP_060753.1:p.Val18_Val19insGlyVal
NR_136687.1:n.230_235dup (NUDT15)
NR_136688.1:n.230_235dup (NUDT15)
NM_018283.4:c.50_55dup (NUDT15) MANE Select NP_060753.1:p.Val18_Val19insGlyVal
NM_001304745.2:c.50_55dup (NUDT15) NP_001291674.1:p.Val18_Val19insGlyVal
NR_136687.2:n.71_76dup (NUDT15)
NR_136688.2:n.71_76dup (NUDT15)