Canonical Allele Identifier: CA2695237108
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837669del , CM000685.2:g.154837669del GRCh38
NC_000023.10:g.154065944del , CM000685.1:g.154065944del GRCh37
NC_000023.9:g.153719138del NCBI36
NG_011403.1:g.190059del
NG_033065.1:g.1998del
NG_011403.2:g.190059del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6988del MANE Select ENSP00000353393.4:p.Gln2330ArgfsTer9
ENST00000644698.1:c.721del ENSP00000495706.1:p.Gln241ArgfsTer9
ENST00000330287.10:c.583del ENSP00000327895.6:p.Gln195ArgfsTer9
ENST00000360256.8:c.6988del ENSP00000353393.4:p.Gln2330ArgfsTer9
NM_000132.3:c.6988del NP_000123.1:p.Gln2330ArgfsTer9
NM_019863.2:c.583del NP_063916.1:p.Gln195ArgfsTer9
XM_011531126.1:c.6883del XP_011529428.1:p.Gln2295ArgfsTer9
NM_000132.4:c.6988del MANE Select NP_000123.1:p.Gln2330ArgfsTer9
NM_019863.3:c.583del NP_063916.1:p.Gln195ArgfsTer9