Canonical Allele Identifier: CA3008560551
Community Standard Title: NM_000132.4(F8):c.6937dup (p.Val2313GlyfsTer?)
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837717dup , CM000685.2:g.154837717dup GRCh38
NC_000023.10:g.154065992dup , CM000685.1:g.154065992dup GRCh37
NC_000023.9:g.153719186dup NCBI36
NG_011403.1:g.190008dup
NG_033065.1:g.1947dup
NG_011403.2:g.190008dup

Transcript Alleles

HGVS Amino-acid Change
NM_000132.4:c.6937dup MANE Select NP_000123.1:p.Val2313GlyfsTer?
ENST00000360256.9:c.6937dup MANE Select ENSP00000353393.4:p.Val2313GlyfsTer?
NM_000132.3:c.6937dup NP_000123.1:p.Val2313GlyfsTer?
NM_019863.2:c.532dup NP_063916.1:p.Val178GlyfsTer?
NM_019863.3:c.532dup NP_063916.1:p.Val178GlyfsTer?
ENST00000330287.10:c.532dup ENSP00000327895.6:p.Val178GlyfsTer?
ENST00000360256.8:c.6937dup ENSP00000353393.4:p.Val2313GlyfsTer?
ENST00000644698.1:c.670dup ENSP00000495706.1:p.Val224GlyfsTer?
XM_011531126.1:c.6832dup XP_011529428.1:p.Val2278GlyfsTer?