Canonical Allele Identifier: CA2697547002
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2770232
ClinVar RCV Id: RCV003580573

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186285700del , CM000666.2:g.186285700del GRCh38
NC_000004.11:g.187206854del , CM000666.1:g.187206854del GRCh37
NC_000004.10:g.187443848del NCBI36
NG_008051.1:g.24737del , LRG_583:g.24737del

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1367del MANE Select ENSP00000384957.2:p.Glu456GlyfsTer11
ENST00000264691.4:c.63del
ENST00000264692.8:c.1205del ENSP00000264692.5:p.Glu402GlyfsTer11
ENST00000403665.6:c.1367del ENSP00000384957.2:p.Glu456GlyfsTer11
NM_000128.3:c.1367del , LRG_583t1:c.1367del NP_000119.1:p.Glu456GlyfsTer11
XM_005262821.2:c.1370del XP_005262878.1:p.Glu457GlyfsTer11
XM_005262822.2:c.1370del XP_005262879.1:p.Glu457GlyfsTer11
XM_005262823.2:c.1100del XP_005262880.1:p.Glu367GlyfsTer11
XM_005262824.1:c.1370del XP_005262881.1:p.Glu457GlyfsTer11
XM_006714137.1:c.1322del XP_006714200.1:p.Glu441GlyfsTer11
XR_938706.1:n.1775del
XR_938707.1:n.1775del
XM_005262821.4:c.1370del XP_005262878.1:p.Glu457GlyfsTer11
XM_005262822.4:c.1370del XP_005262879.1:p.Glu457GlyfsTer11
XM_005262823.4:c.1100del XP_005262880.1:p.Glu367GlyfsTer11
XM_006714137.3:c.1322del XP_006714200.1:p.Glu441GlyfsTer11
XR_001741172.2:n.1841del
NM_000128.4:c.1367del MANE Select NP_000119.1:p.Glu456GlyfsTer11