Canonical Allele Identifier: CA557396097
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 550141
ClinVar RCV Id: RCV000664796
dbSNP Id: rs1554082938

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186280347dup , CM000666.2:g.186280347dup GRCh38
NC_000004.11:g.187201501dup , CM000666.1:g.187201501dup GRCh37
NC_000004.10:g.187438495dup NCBI36
NG_008051.1:g.19384dup , LRG_583:g.19384dup

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.990dup MANE Select ENSP00000384957.2:p.Thr331TyrfsTer28
ENST00000264692.8:c.828dup ENSP00000264692.5:p.Thr277TyrfsTer28
ENST00000403665.6:c.990dup ENSP00000384957.2:p.Thr331TyrfsTer28
ENST00000452239.1:c.437dup
NM_000128.3:c.990dup , LRG_583t1:c.990dup NP_000119.1:p.Thr331TyrfsTer28
XM_005262821.2:c.990dup XP_005262878.1:p.Thr331TyrfsTer29
XM_005262822.2:c.990dup XP_005262879.1:p.Thr331TyrfsTer29
XM_005262823.2:c.720dup XP_005262880.1:p.Thr241TyrfsTer29
XM_005262824.1:c.990dup XP_005262881.1:p.Thr331TyrfsTer29
XM_006714137.1:c.942dup XP_006714200.1:p.Thr315TyrfsTer29
XR_938706.1:n.1342dup
XR_938707.1:n.1342dup
XM_005262821.4:c.990dup XP_005262878.1:p.Thr331TyrfsTer29
XM_005262822.4:c.990dup XP_005262879.1:p.Thr331TyrfsTer29
XM_005262823.4:c.720dup XP_005262880.1:p.Thr241TyrfsTer29
XM_006714137.3:c.942dup XP_006714200.1:p.Thr315TyrfsTer29
XM_017007884.2:c.990dup XP_016863373.1:p.Thr331TyrfsTer29
XM_017007885.2:c.990dup XP_016863374.1:p.Thr331TyrfsTer29
XM_017007886.2:c.990dup XP_016863375.1:p.Thr331TyrfsTer28
XR_001741172.2:n.1323dup
NM_000128.4:c.990dup MANE Select NP_000119.1:p.Thr331TyrfsTer28