Canonical Allele Identifier: CA2466847925
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154965994_154965999delinsATAAAG , CM000685.2:g.154965994_154965999delinsATAAAG GRCh38
NC_000023.10:g.154194269_154194274delinsATAAAG , CM000685.1:g.154194269_154194274delinsATAAAG GRCh37
NC_000023.9:g.153847463_153847468delinsATAAAG NCBI36
NG_011403.1:g.61725_61730delinsCTTTAT
NG_011403.2:g.61725_61730delinsCTTTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1414_1419delinsCTTTAT MANE Select ENSP00000353393.4:p.Leu472=
ENST00000647125.1:c.*1290_*1295delinsCTTTAT ENSP00000496062.1:n.*1290_*1295delinsCTTTAT
ENST00000360256.8:c.1414_1419delinsCTTTAT ENSP00000353393.4:p.Leu472=
ENST00000483822.2:n.234_239delinsCTTTAT
NM_000132.3:c.1414_1419delinsCTTTAT NP_000123.1:p.Leu472=
XM_011531126.1:c.1309_1314delinsCTTTAT XP_011529428.1:p.Leu437=
NM_000132.4:c.1414_1419delinsCTTTAT MANE Select NP_000123.1:p.Leu472=