Canonical Allele Identifier: CA2695237480
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969500_154969530del , CM000685.2:g.154969500_154969530del GRCh38
NC_000023.10:g.154197775_154197805del , CM000685.1:g.154197775_154197805del GRCh37
NC_000023.9:g.153850969_153850999del NCBI36
NG_011403.1:g.58195_58225del
NG_011403.2:g.58195_58225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.811_841del MANE Select ENSP00000353393.4:p.Ser271ProfsTer17
ENST00000647125.1:c.*687_*717del ENSP00000496062.1:n.*687_*717del
ENST00000360256.8:c.811_841del ENSP00000353393.4:p.Ser271ProfsTer17
NM_000132.3:c.811_841del NP_000123.1:p.Ser271ProfsTer17
XM_011531126.1:c.706_736del XP_011529428.1:p.Ser236ProfsTer17
NM_000132.4:c.811_841del MANE Select NP_000123.1:p.Ser271ProfsTer17