Canonical Allele Identifier: CA2695237977
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904061dup , CM000685.2:g.154904061dup GRCh38
NC_000023.10:g.154132336dup , CM000685.1:g.154132336dup GRCh37
NC_000023.9:g.153785530dup NCBI36
NG_011403.1:g.123663dup
NG_011403.2:g.123663dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5843dup MANE Select ENSP00000353393.4:p.Pro1949ThrfsTer22
ENST00000360256.8:c.5843dup ENSP00000353393.4:p.Pro1949ThrfsTer22
NM_000132.3:c.5843dup NP_000123.1:p.Pro1949ThrfsTer22
XM_011531126.1:c.5738dup XP_011529428.1:p.Pro1914ThrfsTer22
NM_000132.4:c.5843dup MANE Select NP_000123.1:p.Pro1949ThrfsTer22