Canonical Allele Identifier: CA3008560494
Community Standard Title: NM_000132.4(F8):c.6965dup (p.Arg2323SerfsTer?)
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837688dup , CM000685.2:g.154837688dup GRCh38
NC_000023.10:g.154065963dup , CM000685.1:g.154065963dup GRCh37
NC_000023.9:g.153719157dup NCBI36
NG_011403.1:g.190036dup
NG_033065.1:g.1975dup
NG_011403.2:g.190036dup

Transcript Alleles

HGVS Amino-acid Change
NM_000132.4:c.6965dup MANE Select NP_000123.1:p.Arg2323SerfsTer?
ENST00000360256.9:c.6965dup MANE Select ENSP00000353393.4:p.Arg2323SerfsTer?
NM_000132.3:c.6965dup NP_000123.1:p.Arg2323SerfsTer?
NM_019863.2:c.560dup NP_063916.1:p.Arg188SerfsTer?
NM_019863.3:c.560dup NP_063916.1:p.Arg188SerfsTer?
ENST00000330287.10:c.560dup ENSP00000327895.6:p.Arg188SerfsTer?
ENST00000360256.8:c.6965dup ENSP00000353393.4:p.Arg2323SerfsTer?
ENST00000644698.1:c.698dup ENSP00000495706.1:p.Arg234SerfsTer?
XM_011531126.1:c.6860dup XP_011529428.1:p.Arg2288SerfsTer?