Canonical Allele Identifier: CA336136008

Gene: F9

Linked Data

• ClinVar Variation Id: 2929351
• ClinVar RCV Id: RCV003782077
• dbSNP Id: rs769388791
• gnomAD v4: X-139548340-ACTGT-A
• MyVariant Identifiers: chrX:g.138630500_138630503del (hg19) ; chrX:g.139548341_139548344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139548343_139548346del , CM000685.2:g.139548343_139548346del	GRCh38
NC_000023.10:g.138630502_138630505del , CM000685.1:g.138630502_138630505del	GRCh37
NC_000023.9:g.138458168_138458171del	NCBI36
NG_007994.1:g.22608_22611del , LRG_556:g.22608_22611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.392-20_392-17del MANE Select	ENSP00000218099.2:n.392-20_392-17del
ENST00000643157.1:n.1059-20_1059-17del
ENST00000218099.6:c.392-20_392-17del	ENSP00000218099.2:n.392-20_392-17del
ENST00000394090.2:c.278-20_278-17del	ENSP00000377650.2:n.278-20_278-17del
ENST00000479617.2:n.345-20_345-17del
NM_000133.3:c.392-20_392-17del , LRG_556t1:c.392-20_392-17del	NP_000124.1:n.392-20_392-17del
NM_001313913.1:c.278-20_278-17del	NP_001300842.1:n.278-20_278-17del
XM_005262397.3:c.392-2719_392-2716del	XP_005262454.1:n.392-2719_392-2716del
XM_005262397.4:c.392-2719_392-2716del	XP_005262454.1:n.392-2719_392-2716del
NM_000133.4:c.392-20_392-17del MANE Select	NP_000124.1:n.392-20_392-17del
NM_001313913.2:c.278-20_278-17del	NP_001300842.1:n.278-20_278-17del