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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:
CA955771467
Gene: NUDT15
HGNC
NCBI
Linked Data
dbSNP Id:
rs1950603818
gnomAD v3:
13-48045564-CA-C
gnomAD v4:
13-48045564-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.48045566del , CM000675.2:g.48045566del
GRCh38
NC_000013.10:g.48619702del , CM000675.1:g.48619702del
GRCh37
NC_000013.9:g.47517703del
NCBI36
NG_047021.1:g.13000del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000258662.3:c.356-94del
MANE Select
ENSP00000258662.1:n.356-94del
ENST00000258662.2:c.356-94del
ENSP00000258662.1:n.356-94del
NM_018283.2:c.356-94del
NP_060753.1:n.356-94del
NM_018283.3:c.356-94del
NP_060753.1:n.356-94del
NR_136687.1:n.536-94del
NR_136688.1:n.536-94del
NM_018283.4:c.356-94del
MANE Select
NP_060753.1:n.356-94del
NR_136687.2:n.377-94del
NR_136688.2:n.377-94del
Search 100 bp 5'
Search 100 bp 3'