Canonical Allele Identifier: CA2579744732
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154961153del , CM000685.2:g.154961153del GRCh38
NC_000023.10:g.154189428del , CM000685.1:g.154189428del GRCh37
NC_000023.9:g.153842622del NCBI36
NG_011403.1:g.66571del
NG_011403.2:g.66571del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1459del MANE Select ENSP00000353393.4:p.Gln487LysfsTer28
ENST00000647125.1:c.*1335del ENSP00000496062.1:n.*1335del
ENST00000360256.8:c.1459del ENSP00000353393.4:p.Gln487LysfsTer28
NM_000132.3:c.1459del NP_000123.1:p.Gln487LysfsTer28
XM_011531126.1:c.1354del XP_011529428.1:p.Gln452LysfsTer28
NM_000132.4:c.1459del MANE Select NP_000123.1:p.Gln487LysfsTer28