Canonical Allele Identifier: CA6978188

Gene: NUDT15 SUCLA2

Linked Data

• dbSNP Id: rs746071566
• ExAC: 13:48611918 AGGAGTC / A
• gnomAD v2: 13-48611918-AGGAGTC-A
• gnomAD v3: 13-48037782-AGGAGTC-A
• gnomAD v4: 13-48037782-AGGAGTC-A
• MyVariant Identifiers: chr13:g.48611919_48611924del (hg19) ; chr13:g.48037783_48037788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48037796_48037801del , CM000675.2:g.48037796_48037801del	GRCh38
NC_000013.10:g.48611932_48611937del , CM000675.1:g.48611932_48611937del	GRCh37
NC_000013.9:g.47509933_47509938del	NCBI36
NG_047021.1:g.5230_5235del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258662.3:c.50_55del (NUDT15) MANE Select	ENSP00000258662.1:p.Gly17_Val18del
ENST00000643246.1:c.-345_-340del (SUCLA2)	ENSP00000496235.1:n.-345_-340del
ENST00000646804.1:c.-267_-262del (SUCLA2)	ENSP00000493977.1:n.-267_-262del
ENST00000258662.2:c.50_55del (NUDT15)	ENSP00000258662.1:p.Gly17_Val18del
NM_001304745.1:c.50_55del (NUDT15)	NP_001291674.1:p.Gly17_Val18del
NM_018283.2:c.50_55del (NUDT15)	NP_060753.1:p.Gly17_Val18del
NM_018283.3:c.50_55del (NUDT15)	NP_060753.1:p.Gly17_Val18del
NR_136687.1:n.230_235del (NUDT15)
NR_136688.1:n.230_235del (NUDT15)
NM_018283.4:c.50_55del (NUDT15) MANE Select	NP_060753.1:p.Gly17_Val18del
NM_001304745.2:c.50_55del (NUDT15)	NP_001291674.1:p.Gly17_Val18del
NR_136687.2:n.71_76del (NUDT15)
NR_136688.2:n.71_76del (NUDT15)