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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:
CA2612850351
Gene: FANCF
HGNC
NCBI
Linked Data
gnomAD v4:
11-22623875-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.22623878del , CM000673.2:g.22623878del
GRCh38
NC_000011.9:g.22645424del , CM000673.1:g.22645424del
GRCh37
NC_000011.8:g.22602000del
NCBI36
NG_007425.1:g.6966del , LRG_527:g.6966del
Transcript Alleles
HGVS
Amino-acid change
ENST00000327470.6:c.*810del
MANE Select
ENSP00000330875.3:n.*810del
ENST00000327470.4:c.*810del
ENSP00000330875.3:n.*810del
NM_022725.3:c.*810del , LRG_527t1:c.*810del
NP_073562.1:n.*810del
NM_022725.4:c.*810del
MANE Select
NP_073562.1:n.*810del
Search 100 bp 5'
Search 100 bp 3'