Canonical Allele Identifier: CA6978165
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs753905355
ExAC: 13:48611848 T / TTCCTGCCGCTGCCAGGCGCG
gnomAD v2: 13-48611848-T-TTCCTGCCGCTGCCAGGCGCG
gnomAD v3: 13-48037712-T-TTCCTGCCGCTGCCAGGCGCG
gnomAD v4: 13-48037712-T-TTCCTGCCGCTGCCAGGCGCG
MyVariant Identifiers: chr13:g.48611848_48611849insTCCTGCCGCTGCCAGGCGCG (hg19) chr13:g.48037712_48037713insTCCTGCCGCTGCCAGGCGCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037717_48037736dup , CM000675.2:g.48037717_48037736dup GRCh38
NC_000013.10:g.48611853_48611872dup , CM000675.1:g.48611853_48611872dup GRCh37
NC_000013.9:g.47509854_47509873dup NCBI36
NG_047021.1:g.5151_5170dup

Transcript Alleles

HGVS Amino-acid change
ENST00000643246.1:c.-289_-270dup (SUCLA2) ENSP00000496235.1:n.-289_-270dup
ENST00000646804.1:c.-211_-192dup (SUCLA2) ENSP00000493977.1:n.-211_-192dup
ENST00000258662.2:c.-30_-11dup (NUDT15) ENSP00000258662.1:n.-30_-11dup
NM_001304745.1:c.-30_-11dup (NUDT15) NP_001291674.1:n.-30_-11dup
NM_018283.2:c.-30_-11dup (NUDT15) NP_060753.1:n.-30_-11dup
NM_018283.3:c.-30_-11dup (NUDT15) NP_060753.1:n.-30_-11dup
NR_136687.1:n.151_170dup (NUDT15)
NR_136688.1:n.151_170dup (NUDT15)
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