Canonical Allele Identifier: CA2695237470
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969479del , CM000685.2:g.154969479del GRCh38
NC_000023.10:g.154197754del , CM000685.1:g.154197754del GRCh37
NC_000023.9:g.153850948del NCBI36
NG_011403.1:g.58246del
NG_011403.2:g.58246del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.862del MANE Select ENSP00000353393.4:p.Ile288TyrfsTer10
ENST00000647125.1:c.*738del ENSP00000496062.1:n.*738del
ENST00000360256.8:c.862del ENSP00000353393.4:p.Ile288TyrfsTer10
NM_000132.3:c.862del NP_000123.1:p.Ile288TyrfsTer10
XM_011531126.1:c.757del XP_011529428.1:p.Ile253TyrfsTer10
NM_000132.4:c.862del MANE Select NP_000123.1:p.Ile288TyrfsTer10