Canonical Allele Identifier: CA915943228
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 659228
ClinVar RCV Id: RCV000816197
dbSNP Id: rs1580098946

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186284231_186284237dup , CM000666.2:g.186284231_186284237dup GRCh38
NC_000004.11:g.187205385_187205391dup , CM000666.1:g.187205385_187205391dup GRCh37
NC_000004.10:g.187442379_187442385dup NCBI36
NG_008051.1:g.23268_23274dup , LRG_583:g.23268_23274dup

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1275_1281dup MANE Select ENSP00000384957.2:p.Thr428AspfsTer15
ENST00000264692.8:c.1113_1119dup ENSP00000264692.5:p.Thr374AspfsTer15
ENST00000403665.6:c.1275_1281dup ENSP00000384957.2:p.Thr428AspfsTer15
NM_000128.3:c.1275_1281dup , LRG_583t1:c.1275_1281dup NP_000119.1:p.Thr428AspfsTer15
XM_005262821.2:c.1278_1284dup XP_005262878.1:p.Thr429AspfsTer15
XM_005262822.2:c.1278_1284dup XP_005262879.1:p.Thr429AspfsTer15
XM_005262823.2:c.1008_1014dup XP_005262880.1:p.Thr339AspfsTer15
XM_005262824.1:c.1278_1284dup XP_005262881.1:p.Thr429AspfsTer15
XM_006714137.1:c.1230_1236dup XP_006714200.1:p.Thr413AspfsTer15
XR_938706.1:n.1683_1689dup
XR_938707.1:n.1683_1689dup
XM_005262821.4:c.1278_1284dup XP_005262878.1:p.Thr429AspfsTer15
XM_005262822.4:c.1278_1284dup XP_005262879.1:p.Thr429AspfsTer15
XM_005262823.4:c.1008_1014dup XP_005262880.1:p.Thr339AspfsTer15
XM_006714137.3:c.1230_1236dup XP_006714200.1:p.Thr413AspfsTer15
XR_001741172.2:n.1749_1755dup
NM_000128.4:c.1275_1281dup MANE Select NP_000119.1:p.Thr428AspfsTer15