Canonical Allele Identifier: CA2580612756
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1605607
ClinVar RCV Id: RCV002137336
dbSNP Id: rs2126756989

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186280132_186280133del , CM000666.2:g.186280132_186280133del GRCh38
NC_000004.11:g.187201286_187201287del , CM000666.1:g.187201286_187201287del GRCh37
NC_000004.10:g.187438280_187438281del NCBI36
NG_008051.1:g.19169_19170del , LRG_583:g.19169_19170del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.865+11_865+12del MANE Select ENSP00000384957.2:n.865+11_865+12del
ENST00000264692.8:c.703+11_703+12del ENSP00000264692.5:n.703+11_703+12del
ENST00000403665.6:c.865+11_865+12del ENSP00000384957.2:n.865+11_865+12del
ENST00000452239.1:c.312+11_312+12del
NM_000128.3:c.865+11_865+12del , LRG_583t1:c.865+11_865+12del NP_000119.1:n.865+11_865+12del
XM_005262821.2:c.865+11_865+12del XP_005262878.1:n.865+11_865+12del
XM_005262822.2:c.865+11_865+12del XP_005262879.1:n.865+11_865+12del
XM_005262823.2:c.595+11_595+12del XP_005262880.1:n.595+11_595+12del
XM_005262824.1:c.865+11_865+12del XP_005262881.1:n.865+11_865+12del
XM_006714137.1:c.865+11_865+12del XP_006714200.1:n.865+11_865+12del
XR_938706.1:n.1217+11_1217+12del
XR_938707.1:n.1217+11_1217+12del
XM_005262821.4:c.865+11_865+12del XP_005262878.1:n.865+11_865+12del
XM_005262822.4:c.865+11_865+12del XP_005262879.1:n.865+11_865+12del
XM_005262823.4:c.595+11_595+12del XP_005262880.1:n.595+11_595+12del
XM_006714137.3:c.865+11_865+12del XP_006714200.1:n.865+11_865+12del
XM_017007884.2:c.865+11_865+12del XP_016863373.1:n.865+11_865+12del
XM_017007885.2:c.865+11_865+12del XP_016863374.1:n.865+11_865+12del
XM_017007886.2:c.865+11_865+12del XP_016863375.1:n.865+11_865+12del
XR_001741172.2:n.1198+11_1198+12del
NM_000128.4:c.865+11_865+12del MANE Select NP_000119.1:n.865+11_865+12del