×
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:
CA2441497518
Gene: POU3F4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.83509182_83509186delinsGGTGA , CM000685.2:g.83509182_83509186delinsGGTGA
GRCh38
NC_000023.10:g.82764190_82764194delinsGGTGA , CM000685.1:g.82764190_82764194delinsGGTGA
GRCh37
NC_000023.9:g.82650846_82650850delinsGGTGA
NCBI36
NG_009936.2:g.5922_5926delinsGGTGA
Transcript Alleles
HGVS
Amino-acid change
ENST00000644024.2:c.858_862delinsGGTGA
MANE Select
ENSP00000495996.1:p.Glu286=
ENST00000373200.4:c.858_862delinsGGTGA
ENSP00000362296.2:p.Glu286=
NM_000307.4:c.858_862delinsGGTGA
NP_000298.3:p.Glu286=
NM_000307.5:c.858_862delinsGGTGA
MANE Select
NP_000298.3:p.Glu286=
Search 100 bp 5'
Search 100 bp 3'