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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:
CA2695152061
Gene: F8
HGNC
NCBI
Linked Data
gnomAD v4:
X-154896265-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154896270del , CM000685.2:g.154896270del
GRCh38
NC_000023.10:g.154124545del , CM000685.1:g.154124545del
GRCh37
NC_000023.9:g.153777739del
NCBI36
NG_011403.1:g.131458del
NG_011403.2:g.131458del
Transcript Alleles
HGVS
Amino-acid change
ENST00000360256.9:c.6274-34del
MANE Select
ENSP00000353393.4:n.6274-34del
ENST00000360256.8:c.6274-34del
ENSP00000353393.4:n.6274-34del
NM_000132.3:c.6274-34del
NP_000123.1:n.6274-34del
XM_011531126.1:c.6169-34del
XP_011529428.1:n.6169-34del
NM_000132.4:c.6274-34del
MANE Select
NP_000123.1:n.6274-34del
Search 100 bp 5'
Search 100 bp 3'