Canonical Allele Identifier: CA2739270369

Gene: F11

Linked Data

• ClinVar Variation Id: 2848145
• ClinVar RCV Id: RCV003693125

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280336del , CM000666.2:g.186280336del	GRCh38
NC_000004.11:g.187201490del , CM000666.1:g.187201490del	GRCh37
NC_000004.10:g.187438484del	NCBI36
NG_008051.1:g.19373del , LRG_583:g.19373del

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.979del MANE Select	ENSP00000384957.2:p.Cys327AlafsTer22
ENST00000264692.8:c.817del	ENSP00000264692.5:p.Cys273AlafsTer22
ENST00000403665.6:c.979del	ENSP00000384957.2:p.Cys327AlafsTer22
ENST00000452239.1:c.426del
NM_000128.3:c.979del , LRG_583t1:c.979del	NP_000119.1:p.Cys327AlafsTer22
XM_005262821.2:c.979del	XP_005262878.1:p.Cys327AlafsTer23
XM_005262822.2:c.979del	XP_005262879.1:p.Cys327AlafsTer23
XM_005262823.2:c.709del	XP_005262880.1:p.Cys237AlafsTer23
XM_005262824.1:c.979del	XP_005262881.1:p.Cys327AlafsTer23
XM_006714137.1:c.931del	XP_006714200.1:p.Cys311AlafsTer23
XR_938706.1:n.1331del
XR_938707.1:n.1331del
XM_005262821.4:c.979del	XP_005262878.1:p.Cys327AlafsTer23
XM_005262822.4:c.979del	XP_005262879.1:p.Cys327AlafsTer23
XM_005262823.4:c.709del	XP_005262880.1:p.Cys237AlafsTer23
XM_006714137.3:c.931del	XP_006714200.1:p.Cys311AlafsTer23
XM_017007884.2:c.979del	XP_016863373.1:p.Cys327AlafsTer23
XM_017007885.2:c.979del	XP_016863374.1:p.Cys327AlafsTer23
XM_017007886.2:c.979del	XP_016863375.1:p.Cys327AlafsTer22
XR_001741172.2:n.1312del
NM_000128.4:c.979del MANE Select	NP_000119.1:p.Cys327AlafsTer22