Canonical Allele Identifier: CA2695237828
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154896180_154896181del , CM000685.2:g.154896180_154896181del GRCh38
NC_000023.10:g.154124455_154124456del , CM000685.1:g.154124455_154124456del GRCh37
NC_000023.9:g.153777649_153777650del NCBI36
NG_011403.1:g.131543_131544del
NG_011403.2:g.131543_131544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6325_6326del MANE Select ENSP00000353393.4:p.Arg2109SerfsTer16
ENST00000360256.8:c.6325_6326del ENSP00000353393.4:p.Arg2109SerfsTer16
NM_000132.3:c.6325_6326del NP_000123.1:p.Arg2109SerfsTer16
XM_011531126.1:c.6220_6221del XP_011529428.1:p.Arg2074SerfsTer16
NM_000132.4:c.6325_6326del MANE Select NP_000123.1:p.Arg2109SerfsTer16