Canonical Allele Identifier: CA3163980

Gene: F11

Linked Data

• ClinVar Variation Id: 1444159
• ClinVar RCV Id: RCV001955835
• dbSNP Id: rs778810767
• ExAC: 4:187206928 AT / A
• gnomAD v2: 4-187206928-AT-A
• gnomAD v4: 4-186285774-AT-A
• MyVariant Identifiers: chr4:g.187206929del (hg19) ; chr4:g.186285775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285776del , CM000666.2:g.186285776del	GRCh38
NC_000004.11:g.187206930del , CM000666.1:g.187206930del	GRCh37
NC_000004.10:g.187443924del	NCBI36
NG_008051.1:g.24813del , LRG_583:g.24813del

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1443del MANE Select	ENSP00000384957.2:p.Ile481MetfsTer4
ENST00000264691.4:c.139del
ENST00000264692.8:c.1281del	ENSP00000264692.5:p.Ile427MetfsTer4
ENST00000403665.6:c.1443del	ENSP00000384957.2:p.Ile481MetfsTer4
NM_000128.3:c.1443del , LRG_583t1:c.1443del	NP_000119.1:p.Ile481MetfsTer4
XM_005262821.2:c.1446del	XP_005262878.1:p.Ile482MetfsTer4
XM_005262822.2:c.1446del	XP_005262879.1:p.Ile482MetfsTer4
XM_005262823.2:c.1176del	XP_005262880.1:p.Ile392MetfsTer4
XM_005262824.1:c.1446del	XP_005262881.1:p.Ile482MetfsTer4
XM_006714137.1:c.1398del	XP_006714200.1:p.Ile466MetfsTer4
XR_938706.1:n.1851del
XR_938707.1:n.1851del
XM_005262821.4:c.1446del	XP_005262878.1:p.Ile482MetfsTer4
XM_005262822.4:c.1446del	XP_005262879.1:p.Ile482MetfsTer4
XM_005262823.4:c.1176del	XP_005262880.1:p.Ile392MetfsTer4
XM_006714137.3:c.1398del	XP_006714200.1:p.Ile466MetfsTer4
XR_001741172.2:n.1917del
NM_000128.4:c.1443del MANE Select	NP_000119.1:p.Ile481MetfsTer4