Canonical Allele Identifier: CA2672902919

Gene: F11

Linked Data

• ClinVar Variation Id: 2886579
• ClinVar RCV Id: RCV003719993
• dbSNP Id: rs2126779711
• gnomAD v4: 4-186285701-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285702_186285703dup , CM000666.2:g.186285702_186285703dup	GRCh38
NC_000004.11:g.187206856_187206857dup , CM000666.1:g.187206856_187206857dup	GRCh37
NC_000004.10:g.187443850_187443851dup	NCBI36
NG_008051.1:g.24739_24740dup , LRG_583:g.24739_24740dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1369_1370dup MANE Select	ENSP00000384957.2:p.Asp457GlufsTer11
ENST00000264691.4:c.65_66dup
ENST00000264692.8:c.1207_1208dup	ENSP00000264692.5:p.Asp403GlufsTer11
ENST00000403665.6:c.1369_1370dup	ENSP00000384957.2:p.Asp457GlufsTer11
NM_000128.3:c.1369_1370dup , LRG_583t1:c.1369_1370dup	NP_000119.1:p.Asp457GlufsTer11
XM_005262821.2:c.1372_1373dup	XP_005262878.1:p.Asp458GlufsTer11
XM_005262822.2:c.1372_1373dup	XP_005262879.1:p.Asp458GlufsTer11
XM_005262823.2:c.1102_1103dup	XP_005262880.1:p.Asp368GlufsTer11
XM_005262824.1:c.1372_1373dup	XP_005262881.1:p.Asp458GlufsTer11
XM_006714137.1:c.1324_1325dup	XP_006714200.1:p.Asp442GlufsTer11
XR_938706.1:n.1777_1778dup
XR_938707.1:n.1777_1778dup
XM_005262821.4:c.1372_1373dup	XP_005262878.1:p.Asp458GlufsTer11
XM_005262822.4:c.1372_1373dup	XP_005262879.1:p.Asp458GlufsTer11
XM_005262823.4:c.1102_1103dup	XP_005262880.1:p.Asp368GlufsTer11
XM_006714137.3:c.1324_1325dup	XP_006714200.1:p.Asp442GlufsTer11
XR_001741172.2:n.1843_1844dup
NM_000128.4:c.1369_1370dup MANE Select	NP_000119.1:p.Asp457GlufsTer11