Canonical Allele Identifier: CA917387602

Gene: F11

Linked Data

• ClinVar Variation Id: 1069881
• ClinVar RCV Id: RCV001381848
• dbSNP Id: rs1561490982
• gnomAD v4: 4-186285797-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285798del , CM000666.2:g.186285798del	GRCh38
NC_000004.11:g.187206952del , CM000666.1:g.187206952del	GRCh37
NC_000004.10:g.187443946del	NCBI36
NG_008051.1:g.24835del , LRG_583:g.24835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1465del MANE Select	ENSP00000384957.2:p.Thr489GlnfsTer2
ENST00000264691.4:c.161del
ENST00000264692.8:c.1303del	ENSP00000264692.5:p.Thr435GlnfsTer2
ENST00000403665.6:c.1465del	ENSP00000384957.2:p.Thr489GlnfsTer2
NM_000128.3:c.1465del , LRG_583t1:c.1465del	NP_000119.1:p.Thr489GlnfsTer2
XM_005262821.2:c.1468del	XP_005262878.1:p.Thr490GlnfsTer2
XM_005262822.2:c.1468del	XP_005262879.1:p.Thr490GlnfsTer2
XM_005262823.2:c.1198del	XP_005262880.1:p.Thr400GlnfsTer2
XM_005262824.1:c.1468del	XP_005262881.1:p.Thr490GlnfsTer2
XM_006714137.1:c.1420del	XP_006714200.1:p.Thr474GlnfsTer2
XR_938706.1:n.1873del
XR_938707.1:n.1873del
XM_005262821.4:c.1468del	XP_005262878.1:p.Thr490GlnfsTer2
XM_005262822.4:c.1468del	XP_005262879.1:p.Thr490GlnfsTer2
XM_005262823.4:c.1198del	XP_005262880.1:p.Thr400GlnfsTer2
XM_006714137.3:c.1420del	XP_006714200.1:p.Thr474GlnfsTer2
XR_001741172.2:n.1939del
NM_000128.4:c.1465del MANE Select	NP_000119.1:p.Thr489GlnfsTer2