×
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:
CA2580612538
Gene: F8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10144
ClinVar RCV Id:
RCV000010857
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154945136_154948644dup , CM000685.2:g.154945136_154948644dup
GRCh38
NC_000023.10:g.154173411_154176919dup , CM000685.1:g.154173411_154176919dup
GRCh37
NC_000023.9:g.153826605_153830113dup
NCBI36
NG_011403.1:g.79081_82589dup
NG_011403.2:g.79081_82589dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000360256.9:c.1904-736_2113+2563dup
ENST00000647125.1:c.*1779+5249_*1779+8757dup
ENSP00000496062.1:n.*1779+5249_*1779+8757...
ENST00000360256.8:c.1904-736_2113+2563dup
NM_000132.3:c.1904-736_2113+2563dup
XM_011531126.1:c.1799-736_2008+2563dup
NM_000132.4:c.1904-736_2113+2563dup
Search 100 bp 5'
Search 100 bp 3'