Canonical Allele Identifier: CA873360978
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330566
ClinVar RCV Id: RCV001803658
dbSNP Id: rs1475873048
MyVariant Identifiers: chrX:g.154837696_154837697insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837698dup , CM000685.2:g.154837698dup GRCh38
NC_000023.10:g.154065973dup , CM000685.1:g.154065973dup GRCh37
NC_000023.9:g.153719167dup NCBI36
NG_011403.1:g.190027dup
NG_033065.1:g.1966dup
NG_011403.2:g.190027dup

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6956dup MANE Select ENSP00000353393.4:p.Leu2320ValfsTer?
ENST00000644698.1:c.689dup ENSP00000495706.1:p.Leu231ValfsTer?
ENST00000330287.10:c.551dup ENSP00000327895.6:p.Leu185ValfsTer?
ENST00000360256.8:c.6956dup ENSP00000353393.4:p.Leu2320ValfsTer?
NM_000132.3:c.6956dup NP_000123.1:p.Leu2320ValfsTer?
NM_019863.2:c.551dup NP_063916.1:p.Leu185ValfsTer?
XM_011531126.1:c.6851dup XP_011529428.1:p.Leu2285ValfsTer?
NM_000132.4:c.6956dup MANE Select NP_000123.1:p.Leu2320ValfsTer?
NM_019863.3:c.551dup NP_063916.1:p.Leu185ValfsTer?
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