Canonical Allele Identifier: CA2695237914
Gene: F8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928665del , CM000685.2:g.154928665del GRCh38
NC_000023.10:g.154156940del , CM000685.1:g.154156940del GRCh37
NC_000023.9:g.153810134del NCBI36
NG_011403.1:g.99059del
NG_011403.2:g.99059del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5125del MANE Select ENSP00000353393.4:p.Ser1709AlafsTer22
ENST00000360256.8:c.5125del ENSP00000353393.4:p.Ser1709AlafsTer22
NM_000132.3:c.5125del NP_000123.1:p.Ser1709AlafsTer22
XM_011531126.1:c.5020del XP_011529428.1:p.Ser1674AlafsTer22
NM_000132.4:c.5125del MANE Select NP_000123.1:p.Ser1709AlafsTer22
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