Canonical Allele Identifier: CA2580071718

Gene: F11

Linked Data

• ClinVar Variation Id: 1724392
• ClinVar RCV Id: RCV002309660

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186276364_186276370del , CM000666.2:g.186276364_186276370del	GRCh38
NC_000004.11:g.187197518_187197524del , CM000666.1:g.187197518_187197524del	GRCh37
NC_000004.10:g.187434512_187434518del	NCBI36
NG_008051.1:g.15401_15407del , LRG_583:g.15401_15407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.729_735del MANE Select	ENSP00000384957.2:p.Gln244GlyfsTer?
ENST00000264692.8:c.567_573del	ENSP00000264692.5:p.Gln190GlyfsTer?
ENST00000403665.6:c.729_735del	ENSP00000384957.2:p.Gln244GlyfsTer?
ENST00000452239.1:c.176_182del
NM_000128.3:c.729_735del , LRG_583t1:c.729_735del	NP_000119.1:p.Gln244GlyfsTer?
XM_005262821.2:c.729_735del	XP_005262878.1:p.Gln244GlyfsTer?
XM_005262822.2:c.729_735del	XP_005262879.1:p.Gln244GlyfsTer?
XM_005262823.2:c.485+2089_485+2095del	XP_005262880.1:n.485+2089_485+2095del
XM_005262824.1:c.729_735del	XP_005262881.1:p.Gln244GlyfsTer?
XM_006714137.1:c.729_735del	XP_006714200.1:p.Gln244GlyfsTer?
XR_938706.1:n.1081_1087del
XR_938707.1:n.1081_1087del
XM_005262821.4:c.729_735del	XP_005262878.1:p.Gln244GlyfsTer?
XM_005262822.4:c.729_735del	XP_005262879.1:p.Gln244GlyfsTer?
XM_005262823.4:c.485+2089_485+2095del	XP_005262880.1:n.485+2089_485+2095del
XM_006714137.3:c.729_735del	XP_006714200.1:p.Gln244GlyfsTer?
XM_017007884.2:c.729_735del	XP_016863373.1:p.Gln244GlyfsTer?
XM_017007885.2:c.729_735del	XP_016863374.1:p.Gln244GlyfsTer?
XM_017007886.2:c.729_735del	XP_016863375.1:p.Gln244GlyfsTer?
XR_001741172.2:n.1062_1068del
NM_000128.4:c.729_735del MANE Select	NP_000119.1:p.Gln244GlyfsTer?