Canonical Allele Identifier: CA199051

Gene: F11

Linked Data

• ClinVar Variation Id: 188757
• ClinVar RCV Id: RCV000169073 ; RCV001850389
• dbSNP Id: rs786204449
• ExAC: 4:187201469 CTG / C
• gnomAD v2: 4-187201469-CTG-C
• gnomAD v4: 4-186280315-CTG-C
• MyVariant Identifiers: chr4:g.187201472_187201473del (hg19) ; chr4:g.187201470_187201471del (hg19) ; chr4:g.186280318_186280319del (hg38) ; chr4:g.186280316_186280317del (hg38)
• PubMed: PMID:16607084 ; PMID:16835901

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280318_186280319del , CM000666.2:g.186280318_186280319del	GRCh38
NC_000004.11:g.187201472_187201473del , CM000666.1:g.187201472_187201473del	GRCh37
NC_000004.10:g.187438466_187438467del	NCBI36
NG_008051.1:g.19355_19356del , LRG_583:g.19355_19356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.961_962del MANE Select	ENSP00000384957.2:p.Cys321HisfsTer?
ENST00000264692.8:c.799_800del	ENSP00000264692.5:p.Cys267HisfsTer?
ENST00000403665.6:c.961_962del	ENSP00000384957.2:p.Cys321HisfsTer?
ENST00000452239.1:c.408_409del
NM_000128.3:c.961_962del , LRG_583t1:c.961_962del	NP_000119.1:p.Cys321HisfsTer?
XM_005262821.2:c.961_962del	XP_005262878.1:p.Cys321HisfsTer?
XM_005262822.2:c.961_962del	XP_005262879.1:p.Cys321HisfsTer?
XM_005262823.2:c.691_692del	XP_005262880.1:p.Cys231HisfsTer?
XM_005262824.1:c.961_962del	XP_005262881.1:p.Cys321HisfsTer?
XM_006714137.1:c.913_914del	XP_006714200.1:p.Cys305HisfsTer?
XR_938706.1:n.1313_1314del
XR_938707.1:n.1313_1314del
XM_005262821.4:c.961_962del	XP_005262878.1:p.Cys321HisfsTer?
XM_005262822.4:c.961_962del	XP_005262879.1:p.Cys321HisfsTer?
XM_005262823.4:c.691_692del	XP_005262880.1:p.Cys231HisfsTer?
XM_006714137.3:c.913_914del	XP_006714200.1:p.Cys305HisfsTer?
XM_017007884.2:c.961_962del	XP_016863373.1:p.Cys321HisfsTer?
XM_017007885.2:c.961_962del	XP_016863374.1:p.Cys321HisfsTer?
XM_017007886.2:c.961_962del	XP_016863375.1:p.Cys321HisfsTer?
XR_001741172.2:n.1294_1295del
NM_000128.4:c.961_962del MANE Select	NP_000119.1:p.Cys321HisfsTer?