Canonical Allele Identifier: CA2580071724
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1726048
ClinVar RCV Id: RCV002307019

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186285741del , CM000666.2:g.186285741del GRCh38
NC_000004.11:g.187206895del , CM000666.1:g.187206895del GRCh37
NC_000004.10:g.187443889del NCBI36
NG_008051.1:g.24778del , LRG_583:g.24778del

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1408del MANE Select ENSP00000384957.2:p.Asp470IlefsTer15
ENST00000264691.4:c.104del
ENST00000264692.8:c.1246del ENSP00000264692.5:p.Asp416IlefsTer15
ENST00000403665.6:c.1408del ENSP00000384957.2:p.Asp470IlefsTer15
NM_000128.3:c.1408del , LRG_583t1:c.1408del NP_000119.1:p.Asp470IlefsTer15
XM_005262821.2:c.1411del XP_005262878.1:p.Asp471IlefsTer15
XM_005262822.2:c.1411del XP_005262879.1:p.Asp471IlefsTer15
XM_005262823.2:c.1141del XP_005262880.1:p.Asp381IlefsTer15
XM_005262824.1:c.1411del XP_005262881.1:p.Asp471IlefsTer15
XM_006714137.1:c.1363del XP_006714200.1:p.Asp455IlefsTer15
XR_938706.1:n.1816del
XR_938707.1:n.1816del
XM_005262821.4:c.1411del XP_005262878.1:p.Asp471IlefsTer15
XM_005262822.4:c.1411del XP_005262879.1:p.Asp471IlefsTer15
XM_005262823.4:c.1141del XP_005262880.1:p.Asp381IlefsTer15
XM_006714137.3:c.1363del XP_006714200.1:p.Asp455IlefsTer15
XR_001741172.2:n.1882del
NM_000128.4:c.1408del MANE Select NP_000119.1:p.Asp470IlefsTer15