Canonical Allele Identifier: CA6978328

Gene: NUDT15

Linked Data

• dbSNP Id: rs745565963
• ExAC: 13:48619877 A / AATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT
• gnomAD v2: 13-48619877-A-AATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT
• MyVariant Identifiers: chr13:g.48619877_48619878insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT (hg19) ; chr13:g.48045741_48045742insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48045741_48045742insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT , CM000675.2:g.48045741_48045742insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT	GRCh38
NC_000013.10:g.48619877_48619878insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT , CM000675.1:g.48619877_48619878insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT	GRCh37
NC_000013.9:g.47517878_47517879insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT	NCBI36
NG_047021.1:g.13175_13176insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.437_438insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT MANE Select	ENSP00000258662.1:p.Tyr146Ter
ENST00000258662.2:c.437_438insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT	ENSP00000258662.1:p.Tyr146Ter
NM_018283.2:c.437_438insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT	NP_060753.1:p.Tyr146Ter
NM_018283.3:c.437_438insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT	NP_060753.1:p.Tyr146Ter
NR_136687.1:n.617_618insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT
NR_136688.1:n.617_618insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT
NM_018283.4:c.437_438insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT MANE Select	NP_060753.1:p.Tyr146Ter
NR_136687.2:n.458_459insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT
NR_136688.2:n.458_459insATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT