Canonical Allele Identifier: CA2838837030
Community Standard Title: NM_000132.4(F8):c.7051del (p.Tyr2351ThrfsTer?)
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837602del , CM000685.2:g.154837602del GRCh38
NC_000023.10:g.154065877del , CM000685.1:g.154065877del GRCh37
NC_000023.9:g.153719071del NCBI36
NG_011403.1:g.190122del
NG_033065.1:g.2061del
NG_011403.2:g.190122del

Transcript Alleles

HGVS Amino-acid Change
NM_000132.4:c.7051del MANE Select NP_000123.1:p.Tyr2351ThrfsTer?
ENST00000360256.9:c.7051del MANE Select ENSP00000353393.4:p.Tyr2351ThrfsTer?
NM_000132.3:c.7051del NP_000123.1:p.Tyr2351ThrfsTer?
NM_019863.2:c.646del NP_063916.1:p.Tyr216ThrfsTer?
NM_019863.3:c.646del NP_063916.1:p.Tyr216ThrfsTer?
ENST00000330287.10:c.646del ENSP00000327895.6:p.Tyr216ThrfsTer?
ENST00000360256.8:c.7051del ENSP00000353393.4:p.Tyr2351ThrfsTer?
ENST00000644698.1:c.784del ENSP00000495706.1:p.Tyr262ThrfsTer?
XM_011531126.1:c.6946del XP_011529428.1:p.Tyr2316ThrfsTer?