Canonical Allele Identifier: CA2466844310
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154953896_154953899delinsCATG , CM000685.2:g.154953896_154953899delinsCATG GRCh38
NC_000023.10:g.154182171_154182174delinsCATG , CM000685.1:g.154182171_154182174delinsCATG GRCh37
NC_000023.9:g.153835365_153835368delinsCATG NCBI36
NG_011403.1:g.73825_73828delinsCATG
NG_011403.2:g.73825_73828delinsCATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1896_1899delinsCATG MANE Select ENSP00000353393.4:p.Ile632=
ENST00000647125.1:c.*1772_*1775delinsCATG ENSP00000496062.1:n.*1772_*1775delinsCATG
ENST00000360256.8:c.1896_1899delinsCATG ENSP00000353393.4:p.Ile632=
NM_000132.3:c.1896_1899delinsCATG NP_000123.1:p.Ile632=
XM_011531126.1:c.1791_1794delinsCATG XP_011529428.1:p.Ile597=
NM_000132.4:c.1896_1899delinsCATG MANE Select NP_000123.1:p.Ile632=