Canonical Allele Identifier: CA2580612753

Gene: F11

Linked Data

• ClinVar Variation Id: 1723919
• ClinVar RCV Id: RCV002306474

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186271727_186271728dup , CM000666.2:g.186271727_186271728dup	GRCh38
NC_000004.11:g.187192881_187192882dup , CM000666.1:g.187192881_187192882dup	GRCh37
NC_000004.10:g.187429875_187429876dup	NCBI36
NG_008051.1:g.10764_10765dup , LRG_583:g.10764_10765dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.174_175dup MANE Select	ENSP00000384957.2:p.Phe59SerfsTer21
ENST00000264692.8:c.174_175dup	ENSP00000264692.5:p.Phe59SerfsTer21
ENST00000403665.6:c.174_175dup	ENSP00000384957.2:p.Phe59SerfsTer21
ENST00000492972.6:c.174_175dup	ENSP00000424479.1:p.Phe59SerfsTer21
NM_000128.3:c.174_175dup , LRG_583t1:c.174_175dup	NP_000119.1:p.Phe59SerfsTer21
XM_005262821.2:c.174_175dup	XP_005262878.1:p.Phe59SerfsTer21
XM_005262822.2:c.174_175dup	XP_005262879.1:p.Phe59SerfsTer21
XM_005262823.2:c.174_175dup	XP_005262880.1:p.Phe59SerfsTer21
XM_005262824.1:c.174_175dup	XP_005262881.1:p.Phe59SerfsTer21
XM_006714137.1:c.174_175dup	XP_006714200.1:p.Phe59SerfsTer21
XR_938706.1:n.526_527dup
XR_938707.1:n.526_527dup
NM_001354804.1:c.174_175dup	NP_001341733.1:p.Phe59SerfsTer21
XM_005262821.4:c.174_175dup	XP_005262878.1:p.Phe59SerfsTer21
XM_005262822.4:c.174_175dup	XP_005262879.1:p.Phe59SerfsTer21
XM_005262823.4:c.174_175dup	XP_005262880.1:p.Phe59SerfsTer21
XM_006714137.3:c.174_175dup	XP_006714200.1:p.Phe59SerfsTer21
XM_017007884.2:c.174_175dup	XP_016863373.1:p.Phe59SerfsTer21
XM_017007885.2:c.174_175dup	XP_016863374.1:p.Phe59SerfsTer21
XM_017007886.2:c.174_175dup	XP_016863375.1:p.Phe59SerfsTer21
XR_001741172.2:n.507_508dup
NM_000128.4:c.174_175dup MANE Select	NP_000119.1:p.Phe59SerfsTer21
NM_001354804.2:c.174_175dup	NP_001341733.1:p.Phe59SerfsTer21