Canonical Allele Identifier: CA2695237958
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928868dup , CM000685.2:g.154928868dup GRCh38
NC_000023.10:g.154157143dup , CM000685.1:g.154157143dup GRCh37
NC_000023.9:g.153810337dup NCBI36
NG_011403.1:g.98856dup
NG_011403.2:g.98856dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.4922dup MANE Select ENSP00000353393.4:p.Glu1642ArgfsTer9
ENST00000360256.8:c.4922dup ENSP00000353393.4:p.Glu1642ArgfsTer9
NM_000132.3:c.4922dup NP_000123.1:p.Glu1642ArgfsTer9
XM_011531126.1:c.4817dup XP_011529428.1:p.Glu1607ArgfsTer9
NM_000132.4:c.4922dup MANE Select NP_000123.1:p.Glu1642ArgfsTer9