Canonical Allele Identifier: CA2579744727
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154961079del , CM000685.2:g.154961079del GRCh38
NC_000023.10:g.154189354del , CM000685.1:g.154189354del GRCh37
NC_000023.9:g.153842548del NCBI36
NG_011403.1:g.66648del
NG_011403.2:g.66648del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1536del MANE Select ENSP00000353393.4:p.Gly513ValfsTer2
ENST00000647125.1:c.*1412del ENSP00000496062.1:n.*1412del
ENST00000360256.8:c.1536del ENSP00000353393.4:p.Gly513ValfsTer2
NM_000132.3:c.1536del NP_000123.1:p.Gly513ValfsTer2
XM_011531126.1:c.1431del XP_011529428.1:p.Gly478ValfsTer2
NM_000132.4:c.1536del MANE Select NP_000123.1:p.Gly513ValfsTer2