Canonical Allele Identifier: CA2466848100
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966464_154966467delinsGTCC , CM000685.2:g.154966464_154966467delinsGTCC GRCh38
NC_000023.10:g.154194739_154194742delinsGTCC , CM000685.1:g.154194739_154194742delinsGTCC GRCh37
NC_000023.9:g.153847933_153847936delinsGTCC NCBI36
NG_011403.1:g.61257_61260delinsGGAC
NG_011403.2:g.61257_61260delinsGGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1230_1233delinsGGAC MANE Select ENSP00000353393.4:p.Glu410=
ENST00000647125.1:c.*1106_*1109delinsGGAC ENSP00000496062.1:n.*1106_*1109delinsGGAC
ENST00000360256.8:c.1230_1233delinsGGAC ENSP00000353393.4:p.Glu410=
ENST00000483822.2:n.50_53delinsGGAC
NM_000132.3:c.1230_1233delinsGGAC NP_000123.1:p.Glu410=
XM_011531126.1:c.1125_1128delinsGGAC XP_011529428.1:p.Glu375=
NM_000132.4:c.1230_1233delinsGGAC MANE Select NP_000123.1:p.Glu410=