Canonical Allele Identifier: CA1139667919
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 973792
ClinVar RCV Id: RCV001265077
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022505_155025612del , CM000685.2:g.155022505_155025612del GRCh38
NC_000023.10:g.154250780_154253887del , CM000685.1:g.154250780_154253887del GRCh37
NC_000023.9:g.153903974_153907081del NCBI36
NG_011403.1:g.2114_5221del
NG_011403.2:g.2114_5221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000423959.5:c.38+1170_38+4277del ENSP00000409446.1:n.38+1170_38+4277del
ENST00000453950.1:c.38+1170_39-7del ENSP00000389153.1:n.38+1170_39-7del
XM_011531126.1:c.38+1170_38+4277del XP_011529428.1:n.38+1170_38+4277del
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