Canonical Allele Identifier: CA2580101792
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2444217
ClinVar RCV Id: RCV003153015
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154903964_154903965del , CM000685.2:g.154903964_154903965del GRCh38
NC_000023.10:g.154132239_154132240del , CM000685.1:g.154132239_154132240del GRCh37
NC_000023.9:g.153785433_153785434del NCBI36
NG_011403.1:g.123759_123760del
NG_011403.2:g.123759_123760del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5939_5940del MANE Select ENSP00000353393.4:p.His1980ArgfsTer11
ENST00000360256.8:c.5939_5940del ENSP00000353393.4:p.His1980ArgfsTer11
NM_000132.3:c.5939_5940del NP_000123.1:p.His1980ArgfsTer11
XM_011531126.1:c.5834_5835del XP_011529428.1:p.His1945ArgfsTer11
NM_000132.4:c.5939_5940del MANE Select NP_000123.1:p.His1980ArgfsTer11
Search 100 bp 5'
Search 100 bp 3'