Canonical Allele Identifier: CA2580071719

Gene: F11

Linked Data

• ClinVar Variation Id: 2440173
• ClinVar RCV Id: RCV003145073

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186276373del , CM000666.2:g.186276373del	GRCh38
NC_000004.11:g.187197527del , CM000666.1:g.187197527del	GRCh37
NC_000004.10:g.187434521del	NCBI36
NG_008051.1:g.15410del , LRG_583:g.15410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.738del MANE Select	ENSP00000384957.2:p.Trp246CysfsTer?
ENST00000264692.8:c.576del	ENSP00000264692.5:p.Trp192CysfsTer?
ENST00000403665.6:c.738del	ENSP00000384957.2:p.Trp246CysfsTer?
ENST00000452239.1:c.185del
NM_000128.3:c.738del , LRG_583t1:c.738del	NP_000119.1:p.Trp246CysfsTer?
XM_005262821.2:c.738del	XP_005262878.1:p.Trp246CysfsTer?
XM_005262822.2:c.738del	XP_005262879.1:p.Trp246CysfsTer?
XM_005262823.2:c.485+2098del	XP_005262880.1:n.485+2098del
XM_005262824.1:c.738del	XP_005262881.1:p.Trp246CysfsTer?
XM_006714137.1:c.738del	XP_006714200.1:p.Trp246CysfsTer?
XR_938706.1:n.1090del
XR_938707.1:n.1090del
XM_005262821.4:c.738del	XP_005262878.1:p.Trp246CysfsTer?
XM_005262822.4:c.738del	XP_005262879.1:p.Trp246CysfsTer?
XM_005262823.4:c.485+2098del	XP_005262880.1:n.485+2098del
XM_006714137.3:c.738del	XP_006714200.1:p.Trp246CysfsTer?
XM_017007884.2:c.738del	XP_016863373.1:p.Trp246CysfsTer?
XM_017007885.2:c.738del	XP_016863374.1:p.Trp246CysfsTer?
XM_017007886.2:c.738del	XP_016863375.1:p.Trp246CysfsTer?
XR_001741172.2:n.1071del
NM_000128.4:c.738del MANE Select	NP_000119.1:p.Trp246CysfsTer?