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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:
CA1917860201
Gene: NEUROG3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.69572445_69572449delinsGAAAA , CM000672.2:g.69572445_69572449delinsGAAAA
GRCh38
NC_000010.10:g.71332201_71332205delinsGAAAA , CM000672.1:g.71332201_71332205delinsGAAAA
GRCh37
NC_000010.9:g.71002207_71002211delinsGAAAA
NCBI36
NG_021321.1:g.6006_6010delinsTTTTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000242462.5:c.595_599delinsTTTTC
MANE Select
ENSP00000242462.4:p.Phe199=
ENST00000242462.4:c.595_599delinsTTTTC
ENSP00000242462.4:p.Phe199=
NM_020999.3:c.595_599delinsTTTTC
NP_066279.2:p.Phe199=
XM_017016280.1:c.595_599delinsTTTTC
XP_016871769.1:p.Phe199=
NM_020999.4:c.595_599delinsTTTTC
MANE Select
NP_066279.2:p.Phe199=
Search 100 bp 5'
Search 100 bp 3'