Canonical Allele Identifier: CA2539880297
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860487del , CM000685.2:g.154860487del GRCh38
NC_000023.10:g.154088762del , CM000685.1:g.154088762del GRCh37
NC_000023.9:g.153741956del NCBI36
NG_011403.1:g.167238del
NG_011403.2:g.167238del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6846del MANE Select ENSP00000353393.4:p.Ser2283AlafsTer17
ENST00000644698.1:c.579del ENSP00000495706.1:p.Ser194AlafsTer17
ENST00000330287.10:c.441del ENSP00000327895.6:p.Ser148AlafsTer17
ENST00000360256.8:c.6846del ENSP00000353393.4:p.Ser2283AlafsTer17
NM_000132.3:c.6846del NP_000123.1:p.Ser2283AlafsTer17
NM_019863.2:c.441del NP_063916.1:p.Ser148AlafsTer17
XM_011531126.1:c.6741del XP_011529428.1:p.Ser2248AlafsTer17
NM_000132.4:c.6846del MANE Select NP_000123.1:p.Ser2283AlafsTer17
NM_019863.3:c.441del NP_063916.1:p.Ser148AlafsTer17