Canonical Allele Identifier: CA16040946
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 371658
ClinVar RCV Id: RCV000411516
dbSNP Id: rs1057517446

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186284188_186284191del , CM000666.2:g.186284188_186284191del GRCh38
NC_000004.11:g.187205342_187205345del , CM000666.1:g.187205342_187205345del GRCh37
NC_000004.10:g.187442336_187442339del NCBI36
NG_008051.1:g.23225_23228del , LRG_583:g.23225_23228del

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1232_1235del MANE Select ENSP00000384957.2:p.Thr411ArgfsTer16
ENST00000264692.8:c.1070_1073del ENSP00000264692.5:p.Thr357ArgfsTer16
ENST00000403665.6:c.1232_1235del ENSP00000384957.2:p.Thr411ArgfsTer16
NM_000128.3:c.1232_1235del , LRG_583t1:c.1232_1235del NP_000119.1:p.Thr411ArgfsTer16
XM_005262821.2:c.1235_1238del XP_005262878.1:p.Thr412ArgfsTer16
XM_005262822.2:c.1235_1238del XP_005262879.1:p.Thr412ArgfsTer16
XM_005262823.2:c.965_968del XP_005262880.1:p.Thr322ArgfsTer16
XM_005262824.1:c.1235_1238del XP_005262881.1:p.Thr412ArgfsTer16
XM_006714137.1:c.1187_1190del XP_006714200.1:p.Thr396ArgfsTer16
XR_938706.1:n.1640_1643del
XR_938707.1:n.1640_1643del
XM_005262821.4:c.1235_1238del XP_005262878.1:p.Thr412ArgfsTer16
XM_005262822.4:c.1235_1238del XP_005262879.1:p.Thr412ArgfsTer16
XM_005262823.4:c.965_968del XP_005262880.1:p.Thr322ArgfsTer16
XM_006714137.3:c.1187_1190del XP_006714200.1:p.Thr396ArgfsTer16
XR_001741172.2:n.1706_1709del
NM_000128.4:c.1232_1235del MANE Select NP_000119.1:p.Thr411ArgfsTer16