Canonical Allele Identifier: CA16040941
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 371284
ClinVar RCV Id: RCV000409581
dbSNP Id: rs1057517151
MyVariant Identifiers: chr4:g.187194297del (hg19) chr4:g.186273143del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186273143del , CM000666.2:g.186273143del GRCh38
NC_000004.11:g.187194297del , CM000666.1:g.187194297del GRCh37
NC_000004.10:g.187431291del NCBI36
NG_008051.1:g.12180del , LRG_583:g.12180del

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.291del MANE Select ENSP00000384957.2:p.Tyr98IlefsTer10
ENST00000264692.8:c.291del ENSP00000264692.5:p.Tyr98IlefsTer10
ENST00000403665.6:c.291del ENSP00000384957.2:p.Tyr98IlefsTer10
ENST00000492972.6:c.291del ENSP00000424479.1:p.Tyr98IlefsTer10
ENST00000514715.1:n.163del
NM_000128.3:c.291del , LRG_583t1:c.291del NP_000119.1:p.Tyr98IlefsTer10
XM_005262821.2:c.291del XP_005262878.1:p.Tyr98IlefsTer10
XM_005262822.2:c.291del XP_005262879.1:p.Tyr98IlefsTer10
XM_005262823.2:c.291del XP_005262880.1:p.Tyr98IlefsTer10
XM_005262824.1:c.291del XP_005262881.1:p.Tyr98IlefsTer10
XM_006714137.1:c.291del XP_006714200.1:p.Tyr98IlefsTer10
XR_938706.1:n.643del
XR_938707.1:n.643del
NM_001354804.1:c.291del NP_001341733.1:p.Tyr98IlefsTer10
XM_005262821.4:c.291del XP_005262878.1:p.Tyr98IlefsTer10
XM_005262822.4:c.291del XP_005262879.1:p.Tyr98IlefsTer10
XM_005262823.4:c.291del XP_005262880.1:p.Tyr98IlefsTer10
XM_006714137.3:c.291del XP_006714200.1:p.Tyr98IlefsTer10
XM_017007884.2:c.291del XP_016863373.1:p.Tyr98IlefsTer10
XM_017007885.2:c.291del XP_016863374.1:p.Tyr98IlefsTer10
XM_017007886.2:c.291del XP_016863375.1:p.Tyr98IlefsTer10
XR_001741172.2:n.624del
NM_000128.4:c.291del MANE Select NP_000119.1:p.Tyr98IlefsTer10
NM_001354804.2:c.291del NP_001341733.1:p.Tyr98IlefsTer10
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