Canonical Allele Identifier: CA2695238488
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154997062del , CM000685.2:g.154997062del GRCh38
NC_000023.10:g.154225337del , CM000685.1:g.154225337del GRCh37
NC_000023.9:g.153878531del NCBI36
NG_011403.1:g.30662del
NG_011403.2:g.30662del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.299del MANE Select ENSP00000353393.4:p.Tyr100LeufsTer?
ENST00000647125.1:c.*85del ENSP00000496062.1:n.*85del
ENST00000360256.8:c.299del ENSP00000353393.4:p.Tyr100LeufsTer?
ENST00000423959.5:c.194del ENSP00000409446.1:p.Tyr65LeufsTer?
ENST00000453950.1:c.281del ENSP00000389153.1:p.Tyr94LeufsTer?
NM_000132.3:c.299del NP_000123.1:p.Tyr100LeufsTer?
XM_011531126.1:c.194del XP_011529428.1:p.Tyr65LeufsTer?
NM_000132.4:c.299del MANE Select NP_000123.1:p.Tyr100LeufsTer?