Canonical Allele Identifier: CA2695237172
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154863163del , CM000685.2:g.154863163del GRCh38
NC_000023.10:g.154091438del , CM000685.1:g.154091438del GRCh37
NC_000023.9:g.153744632del NCBI36
NG_011403.1:g.164561del
NG_011403.2:g.164561del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6494del MANE Select ENSP00000353393.4:p.Ala2165ValfsTer21
ENST00000644698.1:c.227del ENSP00000495706.1:p.Ala76ValfsTer21
ENST00000330287.10:c.89del ENSP00000327895.6:p.Ala30ValfsTer21
ENST00000360256.8:c.6494del ENSP00000353393.4:p.Ala2165ValfsTer21
NM_000132.3:c.6494del NP_000123.1:p.Ala2165ValfsTer21
NM_019863.2:c.89del NP_063916.1:p.Ala30ValfsTer21
XM_011531126.1:c.6389del XP_011529428.1:p.Ala2130ValfsTer21
NM_000132.4:c.6494del MANE Select NP_000123.1:p.Ala2165ValfsTer21
NM_019863.3:c.89del NP_063916.1:p.Ala30ValfsTer21