Canonical Allele Identifier: CA2466807463
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs2072485939

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837730_154837732del , CM000685.2:g.154837730_154837732del GRCh38
NC_000023.10:g.154066005_154066007del , CM000685.1:g.154066005_154066007del GRCh37
NC_000023.9:g.153719199_153719201del NCBI36
NG_011403.1:g.189994_189996del
NG_033065.1:g.1933_1935del
NG_011403.2:g.189994_189996del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6923_6925del MANE Select ENSP00000353393.4:p.Ser2308del
ENST00000644698.1:c.656_658del ENSP00000495706.1:p.Ser219del
ENST00000330287.10:c.518_520del ENSP00000327895.6:p.Ser173del
ENST00000360256.8:c.6923_6925del ENSP00000353393.4:p.Ser2308del
NM_000132.3:c.6923_6925del NP_000123.1:p.Ser2308del
NM_019863.2:c.518_520del NP_063916.1:p.Ser173del
XM_011531126.1:c.6818_6820del XP_011529428.1:p.Ser2273del
NM_000132.4:c.6923_6925del MANE Select NP_000123.1:p.Ser2308del
NM_019863.3:c.518_520del NP_063916.1:p.Ser173del