Canonical Allele Identifier: CA6978163
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs777860844
ExAC: 13:48611846 ACTTCCTGCCGCTGCCAGGCG / A
gnomAD v2: 13-48611846-ACTTCCTGCCGCTGCCAGGCG-A
gnomAD v4: 13-48037710-ACTTCCTGCCGCTGCCAGGCG-A
MyVariant Identifiers: chr13:g.48611847_48611866del (hg19) chr13:g.48037711_48037730del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037712_48037731del , CM000675.2:g.48037712_48037731del GRCh38
NC_000013.10:g.48611848_48611867del , CM000675.1:g.48611848_48611867del GRCh37
NC_000013.9:g.47509849_47509868del NCBI36
NG_047021.1:g.5146_5165del

Transcript Alleles

HGVS Amino-acid change
ENST00000643246.1:c.-287_-268del (SUCLA2) ENSP00000496235.1:n.-287_-268del
ENST00000646804.1:c.-209_-190del (SUCLA2) ENSP00000493977.1:n.-209_-190del
ENST00000258662.2:c.-35_-16del (NUDT15) ENSP00000258662.1:n.-35_-16del
NM_001304745.1:c.-35_-16del (NUDT15) NP_001291674.1:n.-35_-16del
NM_018283.2:c.-35_-16del (NUDT15) NP_060753.1:n.-35_-16del
NM_018283.3:c.-35_-16del (NUDT15) NP_060753.1:n.-35_-16del
NR_136687.1:n.146_165del (NUDT15)
NR_136688.1:n.146_165del (NUDT15)
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