Canonical Allele Identifier: CA2695238172

Gene: F8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154905017_154905018del , CM000685.2:g.154905017_154905018del	GRCh38
NC_000023.10:g.154133292_154133293del , CM000685.1:g.154133292_154133293del	GRCh37
NC_000023.9:g.153786486_153786487del	NCBI36
NG_011403.1:g.122707_122708del
NG_011403.2:g.122707_122708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5380_5381del MANE Select	ENSP00000353393.4:p.Phe1794GlnfsTer13
ENST00000360256.8:c.5380_5381del	ENSP00000353393.4:p.Phe1794GlnfsTer13
NM_000132.3:c.5380_5381del	NP_000123.1:p.Phe1794GlnfsTer13
XM_011531126.1:c.5275_5276del	XP_011529428.1:p.Phe1759GlnfsTer13
NM_000132.4:c.5380_5381del MANE Select	NP_000123.1:p.Phe1794GlnfsTer13