Canonical Allele Identifier: CA2695237435
Gene: F8 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969388del , CM000685.2:g.154969388del GRCh38
NC_000023.10:g.154197663del , CM000685.1:g.154197663del GRCh37
NC_000023.9:g.153850857del NCBI36
NG_011403.1:g.58336del
NG_011403.2:g.58336del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.952del MANE Select ENSP00000353393.4:p.Leu318SerfsTer2
ENST00000647125.1:c.*828del ENSP00000496062.1:n.*828del
ENST00000360256.8:c.952del ENSP00000353393.4:p.Leu318SerfsTer2
NM_000132.3:c.952del NP_000123.1:p.Leu318SerfsTer2
XM_011531126.1:c.847del XP_011529428.1:p.Leu283SerfsTer2
NM_000132.4:c.952del MANE Select NP_000123.1:p.Leu318SerfsTer2
Search 100 bp 5'
Search 100 bp 3'