Canonical Allele Identifier: CA916081460

Gene: F11

Linked Data

• ClinVar Variation Id: 838891
• ClinVar RCV Id: RCV001040540
• dbSNP Id: rs1741165195

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285782del , CM000666.2:g.186285782del	GRCh38
NC_000004.11:g.187206936del , CM000666.1:g.187206936del	GRCh37
NC_000004.10:g.187443930del	NCBI36
NG_008051.1:g.24819del , LRG_583:g.24819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1449del MANE Select	ENSP00000384957.2:p.Leu483PhefsTer2
ENST00000264691.4:c.145del
ENST00000264692.8:c.1287del	ENSP00000264692.5:p.Leu429PhefsTer2
ENST00000403665.6:c.1449del	ENSP00000384957.2:p.Leu483PhefsTer2
NM_000128.3:c.1449del , LRG_583t1:c.1449del	NP_000119.1:p.Leu483PhefsTer2
XM_005262821.2:c.1452del	XP_005262878.1:p.Leu484PhefsTer2
XM_005262822.2:c.1452del	XP_005262879.1:p.Leu484PhefsTer2
XM_005262823.2:c.1182del	XP_005262880.1:p.Leu394PhefsTer2
XM_005262824.1:c.1452del	XP_005262881.1:p.Leu484PhefsTer2
XM_006714137.1:c.1404del	XP_006714200.1:p.Leu468PhefsTer2
XR_938706.1:n.1857del
XR_938707.1:n.1857del
XM_005262821.4:c.1452del	XP_005262878.1:p.Leu484PhefsTer2
XM_005262822.4:c.1452del	XP_005262879.1:p.Leu484PhefsTer2
XM_005262823.4:c.1182del	XP_005262880.1:p.Leu394PhefsTer2
XM_006714137.3:c.1404del	XP_006714200.1:p.Leu468PhefsTer2
XR_001741172.2:n.1923del
NM_000128.4:c.1449del MANE Select	NP_000119.1:p.Leu483PhefsTer2