Canonical Allele Identifier: CA16040939
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 370594
ClinVar RCV Id: RCV000411987
dbSNP Id: rs1057516616
MyVariant Identifiers: chr4:g.187188315_187188318del (hg19) chr4:g.186267161_186267164del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186267161_186267164del , CM000666.2:g.186267161_186267164del GRCh38
NC_000004.11:g.187188315_187188318del , CM000666.1:g.187188315_187188318del GRCh37
NC_000004.10:g.187425309_187425312del NCBI36
NG_008051.1:g.6198_6201del , LRG_583:g.6198_6201del

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.25_28del MANE Select ENSP00000384957.2:p.His9SerfsTer12
ENST00000264692.8:c.25_28del ENSP00000264692.5:p.His9SerfsTer12
ENST00000403665.6:c.25_28del ENSP00000384957.2:p.His9SerfsTer12
ENST00000492972.6:c.25_28del ENSP00000424479.1:p.His9SerfsTer12
NM_000128.3:c.25_28del , LRG_583t1:c.25_28del NP_000119.1:p.His9SerfsTer12
XM_005262821.2:c.25_28del XP_005262878.1:p.His9SerfsTer12
XM_005262822.2:c.25_28del XP_005262879.1:p.His9SerfsTer12
XM_005262823.2:c.25_28del XP_005262880.1:p.His9SerfsTer12
XM_005262824.1:c.25_28del XP_005262881.1:p.His9SerfsTer12
XM_006714137.1:c.25_28del XP_006714200.1:p.His9SerfsTer12
XR_938706.1:n.377_380del
XR_938707.1:n.377_380del
NM_001354804.1:c.25_28del NP_001341733.1:p.His9SerfsTer12
XM_005262821.4:c.25_28del XP_005262878.1:p.His9SerfsTer12
XM_005262822.4:c.25_28del XP_005262879.1:p.His9SerfsTer12
XM_005262823.4:c.25_28del XP_005262880.1:p.His9SerfsTer12
XM_006714137.3:c.25_28del XP_006714200.1:p.His9SerfsTer12
XM_017007884.2:c.25_28del XP_016863373.1:p.His9SerfsTer12
XM_017007885.2:c.25_28del XP_016863374.1:p.His9SerfsTer12
XM_017007886.2:c.25_28del XP_016863375.1:p.His9SerfsTer12
XR_001741172.2:n.358_361del
NM_000128.4:c.25_28del MANE Select NP_000119.1:p.His9SerfsTer12
NM_001354804.2:c.25_28del NP_001341733.1:p.His9SerfsTer12
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