Canonical Allele Identifier: CA2695237948
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928793del , CM000685.2:g.154928793del GRCh38
NC_000023.10:g.154157068del , CM000685.1:g.154157068del GRCh37
NC_000023.9:g.153810262del NCBI36
NG_011403.1:g.98932del
NG_011403.2:g.98932del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.4998del MANE Select ENSP00000353393.4:p.Gln1666HisfsTer4
ENST00000360256.8:c.4998del ENSP00000353393.4:p.Gln1666HisfsTer4
NM_000132.3:c.4998del NP_000123.1:p.Gln1666HisfsTer4
XM_011531126.1:c.4893del XP_011529428.1:p.Gln1631HisfsTer4
NM_000132.4:c.4998del MANE Select NP_000123.1:p.Gln1666HisfsTer4