Canonical Allele Identifier: CA255049

Gene: F8

Linked Data

• ClinVar Variation Id: 10158
• ClinVar RCV Id: RCV000010871
• dbSNP Id: rs387906433
• MyVariant Identifiers: chrX:g.154227819_154227820del (hg19) ; chrX:g.154999544_154999545del (hg38)
• PubMed: PMID:8307558

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154999547_154999548del , CM000685.2:g.154999547_154999548del	GRCh38
NC_000023.10:g.154227822_154227823del , CM000685.1:g.154227822_154227823del	GRCh37
NC_000023.9:g.153881016_153881017del	NCBI36
NG_011403.1:g.28179_28180del
NG_011403.2:g.28179_28180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.199_200del MANE Select	ENSP00000353393.4:p.Lys67AspfsTer15
ENST00000647125.1:c.177_178del	ENSP00000496062.1:p.Arg60ThrfsTer?
ENST00000360256.8:c.199_200del	ENSP00000353393.4:p.Lys67AspfsTer15
ENST00000423959.5:c.94_95del	ENSP00000409446.1:p.Lys32AspfsTer15
ENST00000453950.1:c.181_182del	ENSP00000389153.1:p.Lys61AspfsTer15
NM_000132.3:c.199_200del	NP_000123.1:p.Lys67AspfsTer15
XM_011531126.1:c.94_95del	XP_011529428.1:p.Lys32AspfsTer15
NM_000132.4:c.199_200del MANE Select	NP_000123.1:p.Lys67AspfsTer15