Canonical Allele Identifier: CA2695237232
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154953931_154953934dup , CM000685.2:g.154953931_154953934dup GRCh38
NC_000023.10:g.154182206_154182209dup , CM000685.1:g.154182206_154182209dup GRCh37
NC_000023.9:g.153835400_153835403dup NCBI36
NG_011403.1:g.73790_73793dup
NG_011403.2:g.73790_73793dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1861_1864dup MANE Select ENSP00000353393.4:p.Leu622ProfsTer3
ENST00000647125.1:c.*1737_*1740dup ENSP00000496062.1:n.*1737_*1740dup
ENST00000360256.8:c.1861_1864dup ENSP00000353393.4:p.Leu622ProfsTer3
NM_000132.3:c.1861_1864dup NP_000123.1:p.Leu622ProfsTer3
XM_011531126.1:c.1756_1759dup XP_011529428.1:p.Leu587ProfsTer3
NM_000132.4:c.1861_1864dup MANE Select NP_000123.1:p.Leu622ProfsTer3