Canonical Allele Identifier: CA2622968274
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

gnomAD v4: 13-48037692-CGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037695_48037696del , CM000675.2:g.48037695_48037696del GRCh38
NC_000013.10:g.48611831_48611832del , CM000675.1:g.48611831_48611832del GRCh37
NC_000013.9:g.47509832_47509833del NCBI36
NG_047021.1:g.5129_5130del

Transcript Alleles

HGVS Amino-acid change
ENST00000643246.1:c.-251_-250del (SUCLA2) ENSP00000496235.1:n.-251_-250del
ENST00000646804.1:c.-173_-172del (SUCLA2) ENSP00000493977.1:n.-173_-172del
ENST00000258662.2:c.-52_-51del (NUDT15) ENSP00000258662.1:n.-52_-51del
NM_001304745.1:c.-52_-51del (NUDT15) NP_001291674.1:n.-52_-51del
NM_018283.2:c.-52_-51del (NUDT15) NP_060753.1:n.-52_-51del
NM_018283.3:c.-52_-51del (NUDT15) NP_060753.1:n.-52_-51del
NR_136687.1:n.129_130del (NUDT15)
NR_136688.1:n.129_130del (NUDT15)
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