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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2575412744
Gene: NUDT15
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.48045581del , CM000675.2:g.48045581del
GRCh38
NC_000013.10:g.48619717del , CM000675.1:g.48619717del
GRCh37
NC_000013.9:g.47517718del
NCBI36
NG_047021.1:g.13015del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000258662.3:c.356-79del
MANE Select
ENSP00000258662.1:n.356-79del
ENST00000258662.2:c.356-79del
ENSP00000258662.1:n.356-79del
NM_018283.2:c.356-79del
NP_060753.1:n.356-79del
NM_018283.3:c.356-79del
NP_060753.1:n.356-79del
NR_136687.1:n.536-79del
NR_136688.1:n.536-79del
NM_018283.4:c.356-79del
MANE Select
NP_060753.1:n.356-79del
NR_136687.2:n.377-79del
NR_136688.2:n.377-79del
Search 100 bp 5'
Search 100 bp 3'