Canonical Allele Identifier: CA16040945
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 370362
ClinVar RCV Id: RCV000410660
dbSNP Id: rs1057516431

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186280321_186280322del , CM000666.2:g.186280321_186280322del GRCh38
NC_000004.11:g.187201475_187201476del , CM000666.1:g.187201475_187201476del GRCh37
NC_000004.10:g.187438469_187438470del NCBI36
NG_008051.1:g.19358_19359del , LRG_583:g.19358_19359del

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.964_965del MANE Select ENSP00000384957.2:p.Thr322GlnfsTer?
ENST00000264692.8:c.802_803del ENSP00000264692.5:p.Thr268GlnfsTer?
ENST00000403665.6:c.964_965del ENSP00000384957.2:p.Thr322GlnfsTer?
ENST00000452239.1:c.411_412del
NM_000128.3:c.964_965del , LRG_583t1:c.964_965del NP_000119.1:p.Thr322GlnfsTer?
XM_005262821.2:c.964_965del XP_005262878.1:p.Thr322GlnfsTer?
XM_005262822.2:c.964_965del XP_005262879.1:p.Thr322GlnfsTer?
XM_005262823.2:c.694_695del XP_005262880.1:p.Thr232GlnfsTer?
XM_005262824.1:c.964_965del XP_005262881.1:p.Thr322GlnfsTer?
XM_006714137.1:c.916_917del XP_006714200.1:p.Thr306GlnfsTer?
XR_938706.1:n.1316_1317del
XR_938707.1:n.1316_1317del
XM_005262821.4:c.964_965del XP_005262878.1:p.Thr322GlnfsTer?
XM_005262822.4:c.964_965del XP_005262879.1:p.Thr322GlnfsTer?
XM_005262823.4:c.694_695del XP_005262880.1:p.Thr232GlnfsTer?
XM_006714137.3:c.916_917del XP_006714200.1:p.Thr306GlnfsTer?
XM_017007884.2:c.964_965del XP_016863373.1:p.Thr322GlnfsTer?
XM_017007885.2:c.964_965del XP_016863374.1:p.Thr322GlnfsTer?
XM_017007886.2:c.964_965del XP_016863375.1:p.Thr322GlnfsTer?
XR_001741172.2:n.1297_1298del
NM_000128.4:c.964_965del MANE Select NP_000119.1:p.Thr322GlnfsTer?