Canonical Allele Identifier: CA2695238536
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022467_155022474del , CM000685.2:g.155022467_155022474del GRCh38
NC_000023.10:g.154250742_154250749del , CM000685.1:g.154250742_154250749del GRCh37
NC_000023.9:g.153903936_153903943del NCBI36
NG_011403.1:g.5252_5259del
NG_011403.2:g.5252_5259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.81_88del MANE Select ENSP00000353393.4:p.Ala28ThrfsTer9
ENST00000647125.1:c.81_88del ENSP00000496062.1:p.Ala28ThrfsTer9
ENST00000360256.8:c.81_88del ENSP00000353393.4:p.Ala28ThrfsTer9
ENST00000423959.5:c.38+4308_38+4315del ENSP00000409446.1:n.38+4308_38+4315del
ENST00000453950.1:c.63_70del ENSP00000389153.1:p.Ala22ThrfsTer9
NM_000132.3:c.81_88del NP_000123.1:p.Ala28ThrfsTer9
XM_011531126.1:c.38+4308_38+4315del XP_011529428.1:n.38+4308_38+4315del
NM_000132.4:c.81_88del MANE Select NP_000123.1:p.Ala28ThrfsTer9