Canonical Allele Identifier: CA199045
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 188727
dbSNP Id: rs786204429

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186280520del , CM000666.2:g.186280520del GRCh38
NC_000004.11:g.187201674del , CM000666.1:g.187201674del GRCh37
NC_000004.10:g.187438668del NCBI36
NG_008051.1:g.19557del , LRG_583:g.19557del

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1075del MANE Select ENSP00000384957.2:p.Ile359TyrfsTer13
ENST00000264692.8:c.913del ENSP00000264692.5:p.Ile305TyrfsTer13
ENST00000403665.6:c.1075del ENSP00000384957.2:p.Ile359TyrfsTer13
ENST00000452239.1:n.522del
NM_000128.3:c.1075del , LRG_583t1:c.1075del NP_000119.1:p.Ile359TyrfsTer13
XM_005262821.2:c.1078del XP_005262878.1:p.Ile360TyrfsTer13
XM_005262822.2:c.1078del XP_005262879.1:p.Ile360TyrfsTer13
XM_005262823.2:c.808del XP_005262880.1:p.Ile270TyrfsTer13
XM_005262824.1:c.1078del XP_005262881.1:p.Ile360TyrfsTer13
XM_006714137.1:c.1030del XP_006714200.1:p.Ile344TyrfsTer13
XR_938706.1:n.1430del
XR_938707.1:n.1430del
XM_005262821.4:c.1078del XP_005262878.1:p.Ile360TyrfsTer13
XM_005262822.4:c.1078del XP_005262879.1:p.Ile360TyrfsTer13
XM_005262823.4:c.808del XP_005262880.1:p.Ile270TyrfsTer13
XM_006714137.3:c.1030del XP_006714200.1:p.Ile344TyrfsTer13
XM_017007884.2:c.1078del XP_016863373.1:p.Ile360TyrfsTer13
XM_017007885.2:c.1078del XP_016863374.1:p.Ile360TyrfsTer13
XM_017007886.2:c.1075del XP_016863375.1:p.Ile359TyrfsTer13
XR_001741172.2:n.1496del
NM_000128.4:c.1075del MANE Select NP_000119.1:p.Ile359TyrfsTer13