Canonical Allele Identifier: CA645613294

Gene: F9

Linked Data

• dbSNP Id: rs1312779174
• COSMIC: COSM4682263
• MyVariant Identifiers: chrX:g.138644210_138644211insA (hg19) ; chrX:g.139562051_139562052insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139562057dup , CM000685.2:g.139562057dup	GRCh38
NC_000023.10:g.138644216dup , CM000685.1:g.138644216dup	GRCh37
NC_000023.9:g.138471882dup	NCBI36
NG_007994.1:g.36322dup , LRG_556:g.36322dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1372dup MANE Select	ENSP00000218099.2:p.Thr458AsnfsTer18
ENST00000643157.1:n.1723+316dup
ENST00000218099.6:c.1372dup	ENSP00000218099.2:p.Thr458AsnfsTer18
ENST00000394090.2:c.1258dup	ENSP00000377650.2:p.Thr420AsnfsTer?
NM_000133.3:c.1372dup , LRG_556t1:c.1372dup	NP_000124.1:p.Thr458AsnfsTer18
NM_001313913.1:c.1258dup	NP_001300842.1:p.Thr420AsnfsTer18
XM_005262397.3:c.1243dup	XP_005262454.1:p.Thr415AsnfsTer18
XM_005262397.4:c.1243dup	XP_005262454.1:p.Thr415AsnfsTer18
NM_000133.4:c.1372dup MANE Select	NP_000124.1:p.Thr458AsnfsTer18
NM_001313913.2:c.1258dup	NP_001300842.1:p.Thr420AsnfsTer18