Canonical Allele Identifier: CA7130500

Gene: TINF2

Linked Data

• ClinVar Variation Id: 656147
• ClinVar RCV Id: RCV000812488 ; RCV001816885
• dbSNP Id: rs776727691
• ExAC: 14:24709516 A / ATGTAGCAAT
• gnomAD v2: 14-24709516-A-ATGTAGCAAT
• gnomAD v3: 14-24240310-A-ATGTAGCAAT
• gnomAD v4: 14-24240310-A-ATGTAGCAAT
• MyVariant Identifiers: chr14:g.24709516_24709517insTGTAGCAAT (hg19) ; chr14:g.24240310_24240311insTGTAGCAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240311_24240319dup , CM000676.2:g.24240311_24240319dup	GRCh38
NC_000014.8:g.24709517_24709525dup , CM000676.1:g.24709517_24709525dup	GRCh37
NC_000014.7:g.23779357_23779365dup	NCBI36
NG_016650.1:g.7356_7364dup
NG_054634.1:g.12895_12903dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1464_1472dup
ENST00000557921.3:c.*96_*104dup	ENSP00000453157.3:n.*96_*104dup
ENST00000699682.1:n.1551_1559dup
ENST00000699683.1:n.1601_1609dup
ENST00000699684.1:c.*754_*762dup	ENSP00000514523.1:n.*754_*762dup
ENST00000699685.1:n.1365_1373dup
ENST00000699686.1:c.*96_*104dup	ENSP00000514524.1:n.*96_*104dup
ENST00000699687.1:c.*96_*104dup	ENSP00000514525.1:n.*96_*104dup
ENST00000699688.1:n.1361_1369dup
ENST00000699689.1:n.1717_1725dup
ENST00000699690.1:n.1914_1922dup
ENST00000699691.1:n.2058_2066dup
ENST00000699692.1:n.12_20dup
ENST00000699693.1:n.1490_1498dup
ENST00000699694.1:n.1820_1828dup
ENST00000699695.1:c.*445_*453dup	ENSP00000514526.1:n.*445_*453dup
ENST00000699696.1:n.1464_1472dup
ENST00000699697.1:c.1073_1081dup	ENSP00000514527.1:p.Tyr360_Met361insAsnCysTyr
ENST00000699698.1:n.994_1002dup
ENST00000699699.1:n.1485_1493dup
ENST00000699700.1:n.1608_1616dup
ENST00000699701.1:c.*541_*549dup	ENSP00000514528.1:n.*541_*549dup
ENST00000267415.12:c.1073_1081dup MANE Select	ENSP00000267415.7:p.Tyr360_Met361insAsnCysTyr
ENST00000646753.1:c.968_976dup	ENSP00000494065.1:p.Tyr325_Met326insAsnCysTyr
ENST00000267415.11:c.1073_1081dup	ENSP00000267415.7:p.Tyr360_Met361insAsnCysTyr
ENST00000399423.8:c.*96_*104dup	ENSP00000382350.4:n.*96_*104dup
ENST00000557915.1:n.280_288dup
ENST00000558566.1:c.*533_*541dup	ENSP00000453025.1:n.*533_*541dup
ENST00000559969.5:c.919_927dup
ENST00000560019.5:c.68_76dup	ENSP00000453113.1:p.Tyr25_Met26insAsnCysTyr
ENST00000626689.2:c.*445_*453dup	ENSP00000486681.1:n.*445_*453dup
NM_001099274.1:c.1073_1081dup	NP_001092744.1:p.Tyr360_Met361insAsnCysTyr
NM_012461.2:c.*96_*104dup	NP_036593.2:n.*96_*104dup
XM_005267528.2:c.1073_1081dup	XP_005267585.1:p.Tyr360_Met361insAsnCysTyr
XM_005267529.2:c.968_976dup	XP_005267586.1:p.Tyr325_Met326insAsnCysTyr
NM_001099274.2:c.1073_1081dup	NP_001092744.1:p.Tyr360_Met361insAsnCysTyr
NM_001363668.1:c.968_976dup	NP_001350597.1:p.Tyr325_Met326insAsnCysTyr
NM_012461.3:c.*96_*104dup	NP_036593.2:n.*96_*104dup
XM_011536642.2:c.*541_*549dup	XP_011534944.1:n.*541_*549dup
XM_017021216.2:c.431_439dup	XP_016876705.1:p.Tyr146_Met147insAsnCysTyr
XM_017021217.1:c.431_439dup	XP_016876706.1:p.Tyr146_Met147insAsnCysTyr
NM_001099274.3:c.1073_1081dup MANE Select	NP_001092744.1:p.Tyr360_Met361insAsnCysTyr
NM_001363668.2:c.968_976dup	NP_001350597.1:p.Tyr325_Met326insAsnCysTyr