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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:
CA2486364252
Gene: CENPF
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.214622253C= , CM000663.2:g.214622253C=
GRCh38
NC_000001.10:g.214795596C= , CM000663.1:g.214795596C=
GRCh37
NC_000001.9:g.212862219C=
NCBI36
NG_046787.1:g.24075C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000706764.1:n.1218C=
ENST00000706765.1:c.1040C=
ENSP00000516538.1:p.Thr347=
ENST00000366955.8:c.1040C=
MANE Select
ENSP00000355922.3:p.Thr347=
ENST00000366955.7:c.1040C=
ENSP00000355922.3:p.Thr347=
NM_016343.3:c.1040C=
NP_057427.3:p.Thr347=
XM_011509082.1:c.1040C=
XP_011507384.1:p.Thr347=
XM_011509082.3:c.1040C=
XP_011507384.1:p.Thr347=
XM_017000086.2:c.1040C=
XP_016855575.1:p.Thr347=
NM_016343.4:c.1040C=
MANE Select
NP_057427.3:p.Thr347=
Search 100 bp 5'
Search 100 bp 3'