Canonical Allele Identifier: CA2695237113

Gene: F8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837700_154837703dup , CM000685.2:g.154837700_154837703dup	GRCh38
NC_000023.10:g.154065975_154065978dup , CM000685.1:g.154065975_154065978dup	GRCh37
NC_000023.9:g.153719169_153719172dup	NCBI36
NG_011403.1:g.190024_190027dup
NG_033065.1:g.1963_1966dup
NG_011403.2:g.190024_190027dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000132.4:c.6953_6956dup MANE Select	NP_000123.1:p.Leu2320ThrfsTer?
ENST00000360256.9:c.6953_6956dup MANE Select	ENSP00000353393.4:p.Leu2320ThrfsTer?
NM_000132.3:c.6953_6956dup	NP_000123.1:p.Leu2320ThrfsTer?
NM_019863.2:c.548_551dup	NP_063916.1:p.Leu185ThrfsTer?
NM_019863.3:c.548_551dup	NP_063916.1:p.Leu185ThrfsTer?
ENST00000330287.10:c.548_551dup	ENSP00000327895.6:p.Leu185ThrfsTer?
ENST00000360256.8:c.6953_6956dup	ENSP00000353393.4:p.Leu2320ThrfsTer?
ENST00000644698.1:c.686_689dup	ENSP00000495706.1:p.Leu231ThrfsTer?
XM_011531126.1:c.6848_6851dup	XP_011529428.1:p.Leu2285ThrfsTer?