Canonical Allele Identifier: CA2695237241
Gene: F8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154954005_154954012del , CM000685.2:g.154954005_154954012del GRCh38
NC_000023.10:g.154182280_154182287del , CM000685.1:g.154182280_154182287del GRCh37
NC_000023.9:g.153835474_153835481del NCBI36
NG_011403.1:g.73712_73719del
NG_011403.2:g.73712_73719del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1783_1790del MANE Select ENSP00000353393.4:p.Phe595IlefsTer2
ENST00000647125.1:c.*1659_*1666del ENSP00000496062.1:n.*1659_*1666del
ENST00000360256.8:c.1783_1790del ENSP00000353393.4:p.Phe595IlefsTer2
NM_000132.3:c.1783_1790del NP_000123.1:p.Phe595IlefsTer2
XM_011531126.1:c.1678_1685del XP_011529428.1:p.Phe560IlefsTer2
NM_000132.4:c.1783_1790del MANE Select NP_000123.1:p.Phe595IlefsTer2
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