Canonical Allele Identifier: CA10603146

Gene: FERRY3

Linked Data

• ClinVar Variation Id: 279717
• ClinVar RCV Id: RCV000289982
• dbSNP Id: rs886041150
• MyVariant Identifiers: chr12:g.4634506_4634509dupTTGT (hg19) ; chr12:g.4634505_4634506insTTGT (hg19) ; chr12:g.4525340_4525343dupTTGT (hg38) ; chr12:g.4525339_4525340insTTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4525342_4525345dup , CM000674.2:g.4525342_4525345dup	GRCh38
NC_000012.11:g.4634508_4634511dup , CM000674.1:g.4634508_4634511dup	GRCh37
NC_000012.10:g.4504769_4504772dup	NCBI36
NG_051648.1:g.18166_18169dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261250.8:c.639_642dup MANE Select	ENSP00000261250.3:p.Ser215ThrfsTer30
ENST00000261250.7:c.639_642dup	ENSP00000261250.3:p.Ser215ThrfsTer30
ENST00000535887.1:n.160_163dup
ENST00000541014.5:c.120_123dup	ENSP00000440820.1:p.Ser42ThrfsTer30
ENST00000544697.1:c.120_123dup	ENSP00000439471.1:p.Ser42ThrfsTer30
ENST00000545746.5:c.639_642dup	ENSP00000439996.1:p.Ser215ThrfsTer30
NM_001304811.1:c.639_642dup	NP_001291740.1:p.Ser215ThrfsTer30
NM_020374.3:c.639_642dup	NP_065107.1:p.Ser215ThrfsTer30
XM_005253716.1:c.639_642dup	XP_005253773.1:p.Ser215ThrfsTer30
XM_006718992.2:c.639_642dup	XP_006719055.1:p.Ser215ThrfsTer30
XM_011520986.1:c.120_123dup	XP_011519288.1:p.Ser42ThrfsTer30
NM_001346153.1:c.639_642dup	NP_001333082.1:p.Ser215ThrfsTer30
NM_001346155.1:c.639_642dup	NP_001333084.1:p.Ser215ThrfsTer30
NM_001346156.1:c.120_123dup	NP_001333085.1:p.Ser42ThrfsTer30
NM_001346157.1:c.120_123dup	NP_001333086.1:p.Ser42ThrfsTer30
NM_001352962.1:c.-107_-104dup	NP_001339891.1:n.-107_-104dup
NR_144379.1:n.764_767dup
NR_144380.1:n.764_767dup
NR_144382.1:n.561_564dup
XM_006718992.3:c.639_642dup	XP_006719055.1:p.Ser215ThrfsTer30
NM_020374.4:c.639_642dup MANE Select	NP_065107.1:p.Ser215ThrfsTer30
NM_001304811.2:c.639_642dup	NP_001291740.1:p.Ser215ThrfsTer30
NM_001346153.2:c.639_642dup	NP_001333082.1:p.Ser215ThrfsTer30
NM_001346155.2:c.639_642dup	NP_001333084.1:p.Ser215ThrfsTer30
NM_001346156.2:c.120_123dup	NP_001333085.1:p.Ser42ThrfsTer30
NM_001346157.2:c.120_123dup	NP_001333086.1:p.Ser42ThrfsTer30
NM_001352962.2:c.-107_-104dup	NP_001339891.1:n.-107_-104dup
NR_144379.2:n.725_728dup
NR_144380.2:n.725_728dup
NR_144382.2:n.522_525dup