Canonical Allele Identifier: CA873358609

Gene: F8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154999540_154999541del , CM000685.2:g.154999540_154999541del	GRCh38
NC_000023.10:g.154227815_154227816del , CM000685.1:g.154227815_154227816del	GRCh37
NC_000023.9:g.153881009_153881010del	NCBI36
NG_011403.1:g.28185_28186del
NG_011403.2:g.28185_28186del

Transcript Alleles

HGVS	Amino-acid Change
NM_000132.4:c.205_206del MANE Select	NP_000123.1:p.Leu69ValfsTer13
ENST00000360256.9:c.205_206del MANE Select	ENSP00000353393.4:p.Leu69ValfsTer13
NM_000132.3:c.205_206del	NP_000123.1:p.Leu69ValfsTer13
ENST00000360256.8:c.205_206del	ENSP00000353393.4:p.Leu69ValfsTer13
ENST00000423959.5:c.100_101del	ENSP00000409446.1:p.Leu34ValfsTer13
ENST00000453950.1:c.187_188del	ENSP00000389153.1:p.Leu63ValfsTer13
ENST00000647125.1:c.183_184del	ENSP00000496062.1:p.Cys62PhefsTer?
XM_011531126.1:c.100_101del	XP_011529428.1:p.Leu34ValfsTer13