Canonical Allele Identifier: CA2695238164
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904992_154904993insCC , CM000685.2:g.154904992_154904993insCC GRCh38
NC_000023.10:g.154133267_154133268insCC , CM000685.1:g.154133267_154133268insCC GRCh37
NC_000023.9:g.153786461_153786462insCC NCBI36
NG_011403.1:g.122731_122732insGG
NG_011403.2:g.122731_122732insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5404_5405insGG MANE Select ENSP00000353393.4:p.Tyr1802TrpfsTer?
ENST00000360256.8:c.5404_5405insGG ENSP00000353393.4:p.Tyr1802TrpfsTer?
NM_000132.3:c.5404_5405insGG NP_000123.1:p.Tyr1802TrpfsTer?
XM_011531126.1:c.5299_5300insGG XP_011529428.1:p.Tyr1767TrpfsTer?
NM_000132.4:c.5404_5405insGG MANE Select NP_000123.1:p.Tyr1802TrpfsTer?