Canonical Allele Identifier: CA6978324

Gene: NUDT15

Linked Data

• dbSNP Id: rs749170586
• ExAC: 13:48619853 T / TGGTCCAGCTTTTCTGGGCA
• gnomAD v2: 13-48619853-T-TGGTCCAGCTTTTCTGGGCA
• gnomAD v3: 13-48045717-T-TGGTCCAGCTTTTCTGGGCA
• gnomAD v4: 13-48045717-T-TGGTCCAGCTTTTCTGGGCA
• MyVariant Identifiers: chr13:g.48619853_48619854insGGTCCAGCTTTTCTGGGCA (hg19) ; chr13:g.48045717_48045718insGGTCCAGCTTTTCTGGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48045718_48045719insGTCCAGCTTTTCTGGGCAG , CM000675.2:g.48045718_48045719insGTCCAGCTTTTCTGGGCAG	GRCh38
NC_000013.10:g.48619854_48619855insGTCCAGCTTTTCTGGGCAG , CM000675.1:g.48619854_48619855insGTCCAGCTTTTCTGGGCAG	GRCh37
NC_000013.9:g.47517855_47517856insGTCCAGCTTTTCTGGGCAG	NCBI36
NG_047021.1:g.13152_13153insGTCCAGCTTTTCTGGGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.414_415insGTCCAGCTTTTCTGGGCAG MANE Select	ENSP00000258662.1:p.Arg139ValfsTer15
ENST00000258662.2:c.414_415insGTCCAGCTTTTCTGGGCAG	ENSP00000258662.1:p.Arg139ValfsTer15
NM_018283.2:c.414_415insGTCCAGCTTTTCTGGGCAG	NP_060753.1:p.Arg139ValfsTer15
NM_018283.3:c.414_415insGTCCAGCTTTTCTGGGCAG	NP_060753.1:p.Arg139ValfsTer15
NR_136687.1:n.594_595insGTCCAGCTTTTCTGGGCAG
NR_136688.1:n.594_595insGTCCAGCTTTTCTGGGCAG
NM_018283.4:c.414_415insGTCCAGCTTTTCTGGGCAG MANE Select	NP_060753.1:p.Arg139ValfsTer15
NR_136687.2:n.435_436insGTCCAGCTTTTCTGGGCAG
NR_136688.2:n.435_436insGTCCAGCTTTTCTGGGCAG