Canonical Allele Identifier: CA557396098
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 558063
ClinVar RCV Id: RCV000674279
dbSNP Id: rs1459304265

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186276279_186276284del , CM000666.2:g.186276279_186276284del GRCh38
NC_000004.11:g.187197433_187197438del , CM000666.1:g.187197433_187197438del GRCh37
NC_000004.10:g.187434427_187434432del NCBI36
NG_008051.1:g.15316_15321del , LRG_583:g.15316_15321del

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.644_649del MANE Select ENSP00000384957.2:p.Ile215_Asp216del
ENST00000264692.8:c.482_487del ENSP00000264692.5:p.Ile161_Asp162del
ENST00000403665.6:c.644_649del ENSP00000384957.2:p.Ile215_Asp216del
ENST00000452239.1:c.91_96del
NM_000128.3:c.644_649del , LRG_583t1:c.644_649del NP_000119.1:p.Ile215_Asp216del
XM_005262821.2:c.644_649del XP_005262878.1:p.Ile215_Asp216del
XM_005262822.2:c.644_649del XP_005262879.1:p.Ile215_Asp216del
XM_005262823.2:c.485+2004_485+2009del XP_005262880.1:n.485+2004_485+2009del
XM_005262824.1:c.644_649del XP_005262881.1:p.Ile215_Asp216del
XM_006714137.1:c.644_649del XP_006714200.1:p.Ile215_Asp216del
XR_938706.1:n.996_1001del
XR_938707.1:n.996_1001del
XM_005262821.4:c.644_649del XP_005262878.1:p.Ile215_Asp216del
XM_005262822.4:c.644_649del XP_005262879.1:p.Ile215_Asp216del
XM_005262823.4:c.485+2004_485+2009del XP_005262880.1:n.485+2004_485+2009del
XM_006714137.3:c.644_649del XP_006714200.1:p.Ile215_Asp216del
XM_017007884.2:c.644_649del XP_016863373.1:p.Ile215_Asp216del
XM_017007885.2:c.644_649del XP_016863374.1:p.Ile215_Asp216del
XM_017007886.2:c.644_649del XP_016863375.1:p.Ile215_Asp216del
XR_001741172.2:n.977_982del
NM_000128.4:c.644_649del MANE Select NP_000119.1:p.Ile215_Asp216del