Canonical Allele Identifier: CA2695238141
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904943_154904944dup , CM000685.2:g.154904943_154904944dup GRCh38
NC_000023.10:g.154133218_154133219dup , CM000685.1:g.154133218_154133219dup GRCh37
NC_000023.9:g.153786412_153786413dup NCBI36
NG_011403.1:g.122781_122782dup
NG_011403.2:g.122781_122782dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5454_5455dup MANE Select ENSP00000353393.4:p.Ala1819GlufsTer?
ENST00000360256.8:c.5454_5455dup ENSP00000353393.4:p.Ala1819GlufsTer?
NM_000132.3:c.5454_5455dup NP_000123.1:p.Ala1819GlufsTer?
XM_011531126.1:c.5349_5350dup XP_011529428.1:p.Ala1784GlufsTer?
NM_000132.4:c.5454_5455dup MANE Select NP_000123.1:p.Ala1819GlufsTer?