Canonical Allele Identifier: CA2575412664
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037707_48037708insC , CM000675.2:g.48037707_48037708insC GRCh38
NC_000013.10:g.48611843_48611844insC , CM000675.1:g.48611843_48611844insC GRCh37
NC_000013.9:g.47509844_47509845insC NCBI36
NG_047021.1:g.5141_5142insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000643246.1:c.-265_-264insG (SUCLA2) ENSP00000496235.1:n.-265_-264insG
ENST00000646804.1:c.-187_-186insG (SUCLA2) ENSP00000493977.1:n.-187_-186insG
ENST00000258662.2:c.-40_-39insC (NUDT15) ENSP00000258662.1:n.-40_-39insC
NM_001304745.1:c.-40_-39insC (NUDT15) NP_001291674.1:n.-40_-39insC
NM_018283.2:c.-40_-39insC (NUDT15) NP_060753.1:n.-40_-39insC
NM_018283.3:c.-40_-39insC (NUDT15) NP_060753.1:n.-40_-39insC
NR_136687.1:n.141_142insC (NUDT15)
NR_136688.1:n.141_142insC (NUDT15)