Canonical Allele Identifier: CA2695237431
Gene: F8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969385del , CM000685.2:g.154969385del GRCh38
NC_000023.10:g.154197660del , CM000685.1:g.154197660del GRCh37
NC_000023.9:g.153850854del NCBI36
NG_011403.1:g.58340del
NG_011403.2:g.58340del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.956del MANE Select ENSP00000353393.4:p.Leu319Ter
ENST00000647125.1:c.*832del ENSP00000496062.1:n.*832del
ENST00000360256.8:c.956del ENSP00000353393.4:p.Leu319Ter
NM_000132.3:c.956del NP_000123.1:p.Leu319Ter
XM_011531126.1:c.851del XP_011529428.1:p.Leu284Ter
NM_000132.4:c.956del MANE Select NP_000123.1:p.Leu319Ter
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