Canonical Allele Identifier: CA2825002936
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075898
ClinVar RCV Id: RCV004018216
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904945dup , CM000685.2:g.154904945dup GRCh38
NC_000023.10:g.154133220dup , CM000685.1:g.154133220dup GRCh37
NC_000023.9:g.153786414dup NCBI36
NG_011403.1:g.122780dup
NG_011403.2:g.122780dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5453dup MANE Select ENSP00000353393.4:p.Ala1819SerfsTer4
ENST00000360256.8:c.5453dup ENSP00000353393.4:p.Ala1819SerfsTer4
NM_000132.3:c.5453dup NP_000123.1:p.Ala1819SerfsTer4
XM_011531126.1:c.5348dup XP_011529428.1:p.Ala1784SerfsTer4
NM_000132.4:c.5453dup MANE Select NP_000123.1:p.Ala1819SerfsTer4
Search 100 bp 5'
Search 100 bp 3'