Canonical Allele Identifier: CA2695237283

Gene: F8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154965970_154965971dup , CM000685.2:g.154965970_154965971dup	GRCh38
NC_000023.10:g.154194245_154194246dup , CM000685.1:g.154194245_154194246dup	GRCh37
NC_000023.9:g.153847439_153847440dup	NCBI36
NG_011403.1:g.61753_61754dup
NG_011403.2:g.61753_61754dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1442_1443dup MANE Select	ENSP00000353393.4:p.Ile482Ter
ENST00000647125.1:c.*1318_*1319dup	ENSP00000496062.1:n.*1318_*1319dup
ENST00000360256.8:c.1442_1443dup	ENSP00000353393.4:p.Ile482Ter
ENST00000483822.2:n.262_263dup
NM_000132.3:c.1442_1443dup	NP_000123.1:p.Ile482Ter
XM_011531126.1:c.1337_1338dup	XP_011529428.1:p.Ile447Ter
NM_000132.4:c.1442_1443dup MANE Select	NP_000123.1:p.Ile482Ter