Canonical Allele Identifier: CA6978326
Gene: NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs773703261
ExAC: 13:48619870 C / CT
gnomAD v2: 13-48619870-C-CT
gnomAD v3: 13-48045734-C-CT
gnomAD v4: 13-48045734-C-CT
MyVariant Identifiers: chr13:g.48619870_48619871insT (hg19) chr13:g.48045734_48045735insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045734_48045735insT , CM000675.2:g.48045734_48045735insT GRCh38
NC_000013.10:g.48619870_48619871insT , CM000675.1:g.48619870_48619871insT GRCh37
NC_000013.9:g.47517871_47517872insT NCBI36
NG_047021.1:g.13168_13169insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.430_431insT MANE Select ENSP00000258662.1:p.Gln144LeufsTer4
ENST00000258662.2:c.430_431insT ENSP00000258662.1:p.Gln144LeufsTer4
NM_018283.2:c.430_431insT NP_060753.1:p.Gln144LeufsTer4
NM_018283.3:c.430_431insT NP_060753.1:p.Gln144LeufsTer4
NR_136687.1:n.610_611insT
NR_136688.1:n.610_611insT
NM_018283.4:c.430_431insT MANE Select NP_060753.1:p.Gln144LeufsTer4
NR_136687.2:n.451_452insT
NR_136688.2:n.451_452insT
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