Canonical Allele Identifier: CA645509239

Gene: F8

Linked Data

• ClinVar Variation Id: 439682
• ClinVar RCV Id: RCV000508455
• dbSNP Id: rs1557285171
• MyVariant Identifiers: chrX:g.154225366del (hg19) ; chrX:g.154997091del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997091del , CM000685.2:g.154997091del	GRCh38
NC_000023.10:g.154225366del , CM000685.1:g.154225366del	GRCh37
NC_000023.9:g.153878560del	NCBI36
NG_011403.1:g.30633del
NG_011403.2:g.30633del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.270del MANE Select	ENSP00000353393.4:p.Leu91Ter
ENST00000647125.1:c.*56del	ENSP00000496062.1:n.*56del
ENST00000360256.8:c.270del	ENSP00000353393.4:p.Leu91Ter
ENST00000423959.5:c.165del	ENSP00000409446.1:p.Leu56Ter
ENST00000453950.1:c.252del	ENSP00000389153.1:p.Leu85Ter
NM_000132.3:c.270del	NP_000123.1:p.Leu91Ter
XM_011531126.1:c.165del	XP_011529428.1:p.Leu56Ter
NM_000132.4:c.270del MANE Select	NP_000123.1:p.Leu91Ter