Canonical Allele Identifier: CA2695238483
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154997022_154997025dup , CM000685.2:g.154997022_154997025dup GRCh38
NC_000023.10:g.154225297_154225300dup , CM000685.1:g.154225297_154225300dup GRCh37
NC_000023.9:g.153878491_153878494dup NCBI36
NG_011403.1:g.30701_30704dup
NG_011403.2:g.30701_30704dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.338_341dup MANE Select ENSP00000353393.4:p.Val115SerfsTer16
ENST00000647125.1:c.*124_*127dup ENSP00000496062.1:n.*124_*127dup
ENST00000360256.8:c.338_341dup ENSP00000353393.4:p.Val115SerfsTer16
ENST00000423959.5:c.233_236dup ENSP00000409446.1:p.Val80SerfsTer16
ENST00000453950.1:c.320_323dup ENSP00000389153.1:p.Val109SerfsTer16
NM_000132.3:c.338_341dup NP_000123.1:p.Val115SerfsTer16
XM_011531126.1:c.233_236dup XP_011529428.1:p.Val80SerfsTer16
NM_000132.4:c.338_341dup MANE Select NP_000123.1:p.Val115SerfsTer16