Canonical Allele Identifier: CA2695237251
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154956963del , CM000685.2:g.154956963del GRCh38
NC_000023.10:g.154185238del , CM000685.1:g.154185238del GRCh37
NC_000023.9:g.153838432del NCBI36
NG_011403.1:g.70763del
NG_011403.2:g.70763del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1748del MANE Select ENSP00000353393.4:p.Asn583ThrfsTer3
ENST00000647125.1:c.*1624del ENSP00000496062.1:n.*1624del
ENST00000360256.8:c.1748del ENSP00000353393.4:p.Asn583ThrfsTer3
NM_000132.3:c.1748del NP_000123.1:p.Asn583ThrfsTer3
XM_011531126.1:c.1643del XP_011529428.1:p.Asn548ThrfsTer3
NM_000132.4:c.1748del MANE Select NP_000123.1:p.Asn583ThrfsTer3