Canonical Allele Identifier: CA609576623
Gene: NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs1365736201
gnomAD v2: 13-48619964-AAAGAC-A
gnomAD v3: 13-48045828-AAAGAC-A
gnomAD v4: 13-48045828-AAAGAC-A
MyVariant Identifiers: chr13:g.48619965_48619969del (hg19) chr13:g.48045829_48045833del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045833_48045837del , CM000675.2:g.48045833_48045837del GRCh38
NC_000013.10:g.48619969_48619973del , CM000675.1:g.48619969_48619973del GRCh37
NC_000013.9:g.47517970_47517974del NCBI36
NG_047021.1:g.13267_13271del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.*34_*38del MANE Select ENSP00000258662.1:n.*34_*38del
ENST00000258662.2:c.*34_*38del ENSP00000258662.1:n.*34_*38del
NM_018283.2:c.*34_*38del NP_060753.1:n.*34_*38del
NM_018283.3:c.*34_*38del NP_060753.1:n.*34_*38del
NR_136687.1:n.709_713del
NR_136688.1:n.675+34_675+38del
NM_018283.4:c.*34_*38del MANE Select NP_060753.1:n.*34_*38del
NR_136687.2:n.550_554del
NR_136688.2:n.516+34_516+38del
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