×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2089833516
Gene: NUDT15
HGNC
NCBI
Linked Data
dbSNP Id:
rs1950603872
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.48045570del , CM000675.2:g.48045570del
GRCh38
NC_000013.10:g.48619706del , CM000675.1:g.48619706del
GRCh37
NC_000013.9:g.47517707del
NCBI36
NG_047021.1:g.13004del
Transcript Alleles
HGVS
Amino-acid change
ENST00000258662.3:c.356-90del
MANE Select
ENSP00000258662.1:n.356-90del
ENST00000258662.2:c.356-90del
ENSP00000258662.1:n.356-90del
NM_018283.2:c.356-90del
NP_060753.1:n.356-90del
NM_018283.3:c.356-90del
NP_060753.1:n.356-90del
NR_136687.1:n.536-90del
NR_136688.1:n.536-90del
NM_018283.4:c.356-90del
MANE Select
NP_060753.1:n.356-90del
NR_136687.2:n.377-90del
NR_136688.2:n.377-90del
Search 100 bp 5'
Search 100 bp 3'