×
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:
CA2635788662
Gene: PHF23
HGNC
NCBI
Linked Data
gnomAD v4:
17-7239512-TCCTCCACCTCCTCTCTCCTCCCTCCCTCCTCTTCTCTC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7239518_7239555del , CM000679.2:g.7239518_7239555del
GRCh38
NC_000017.10:g.7142837_7142874del , CM000679.1:g.7142837_7142874del
GRCh37
NC_000017.9:g.7083561_7083598del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000570899.1:c.46+36_46+73del
ENSP00000458416.1:n.46+36_46+73del
XM_006721576.2:c.46+36_46+73del
XP_006721639.1:n.46+36_46+73del
XM_024450938.1:c.46+36_46+73del
XP_024306706.1:n.46+36_46+73del
Search 100 bp 5'
Search 100 bp 3'