Canonical Allele Identifier: CA2622968273
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

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

HGVS Genome Assembly
NC_000013.11:g.48037696dup , CM000675.2:g.48037696dup GRCh38
NC_000013.10:g.48611832dup , CM000675.1:g.48611832dup GRCh37
NC_000013.9:g.47509833dup NCBI36
NG_047021.1:g.5130dup

Transcript Alleles

HGVS Amino-acid change
ENST00000643246.1:c.-250dup (SUCLA2) ENSP00000496235.1:n.-250dup
ENST00000646804.1:c.-172dup (SUCLA2) ENSP00000493977.1:n.-172dup
ENST00000258662.2:c.-51dup (NUDT15) ENSP00000258662.1:n.-51dup
NM_001304745.1:c.-51dup (NUDT15) NP_001291674.1:n.-51dup
NM_018283.2:c.-51dup (NUDT15) NP_060753.1:n.-51dup
NM_018283.3:c.-51dup (NUDT15) NP_060753.1:n.-51dup
NR_136687.1:n.130dup (NUDT15)
NR_136688.1:n.130dup (NUDT15)
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