Canonical Allele Identifier: CA609929349

Gene: NUDT15 SUCLA2

Linked Data

• dbSNP Id: rs1279959716
• gnomAD v2: 13-48611925-GGA-G
• gnomAD v4: 13-48037789-GGA-G
• MyVariant Identifiers: chr13:g.48611926_48611927del (hg19) ; chr13:g.48037790_48037791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48037791_48037792del , CM000675.2:g.48037791_48037792del	GRCh38
NC_000013.10:g.48611927_48611928del , CM000675.1:g.48611927_48611928del	GRCh37
NC_000013.9:g.47509928_47509929del	NCBI36
NG_047021.1:g.5225_5226del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258662.3:c.45_46del (NUDT15) MANE Select	ENSP00000258662.1:p.Val16ArgfsTer?
ENST00000643246.1:c.-348_-347del (SUCLA2)	ENSP00000496235.1:n.-348_-347del
ENST00000646804.1:c.-270_-269del (SUCLA2)	ENSP00000493977.1:n.-270_-269del
ENST00000258662.2:c.45_46del (NUDT15)	ENSP00000258662.1:p.Val16ArgfsTer?
NM_001304745.1:c.45_46del (NUDT15)	NP_001291674.1:p.Val16ArgfsTer?
NM_018283.2:c.45_46del (NUDT15)	NP_060753.1:p.Val16ArgfsTer?
NM_018283.3:c.45_46del (NUDT15)	NP_060753.1:p.Val16ArgfsTer?
NR_136687.1:n.225_226del (NUDT15)
NR_136688.1:n.225_226del (NUDT15)
NM_018283.4:c.45_46del (NUDT15) MANE Select	NP_060753.1:p.Val16ArgfsTer?
NM_001304745.2:c.45_46del (NUDT15)	NP_001291674.1:p.Val16ArgfsTer?
NR_136687.2:n.66_67del (NUDT15)
NR_136688.2:n.66_67del (NUDT15)