Canonical Allele Identifier: CA915952172
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 812039
ClinVar RCV Id: RCV001002612
dbSNP Id: rs1603437863
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022469_155022473del , CM000685.2:g.155022469_155022473del GRCh38
NC_000023.10:g.154250744_154250748del , CM000685.1:g.154250744_154250748del GRCh37
NC_000023.9:g.153903938_153903942del NCBI36
NG_011403.1:g.5254_5258del
NG_011403.2:g.5254_5258del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.83_87del MANE Select ENSP00000353393.4:p.Ala28GlyfsTer10
ENST00000647125.1:c.83_87del ENSP00000496062.1:p.Ala28GlyfsTer10
ENST00000360256.8:c.83_87del ENSP00000353393.4:p.Ala28GlyfsTer10
ENST00000423959.5:c.38+4310_38+4314del ENSP00000409446.1:n.38+4310_38+4314del
ENST00000453950.1:c.65_69del ENSP00000389153.1:p.Ala22GlyfsTer10
NM_000132.3:c.83_87del NP_000123.1:p.Ala28GlyfsTer10
XM_011531126.1:c.38+4310_38+4314del XP_011529428.1:n.38+4310_38+4314del
NM_000132.4:c.83_87del MANE Select NP_000123.1:p.Ala28GlyfsTer10
Search 100 bp 5'
Search 100 bp 3'