Canonical Allele Identifier: CA913187374

Gene: TINF2

Linked Data

• ClinVar Variation Id: 31542
• ClinVar RCV Id: RCV000024249
• dbSNP Id: rs1594551449

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240642del , CM000676.2:g.24240642del	GRCh38
NC_000014.8:g.24709848del , CM000676.1:g.24709848del	GRCh37
NC_000014.7:g.23779688del	NCBI36
NG_016650.1:g.7034del
NG_054634.1:g.13226del

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1142del
ENST00000557921.3:c.731del	ENSP00000453157.3:p.Lys244ArgfsTer?
ENST00000699682.1:n.1229del
ENST00000699683.1:n.1279del
ENST00000699684.1:c.*432del	ENSP00000514523.1:n.*432del
ENST00000699685.1:n.1043del
ENST00000699686.1:c.632del	ENSP00000514524.1:p.Lys211ArgfsTer?
ENST00000699687.1:c.734del	ENSP00000514525.1:p.Lys245ArgfsTer?
ENST00000699688.1:n.1039del
ENST00000699689.1:n.1395del
ENST00000699690.1:n.1592del
ENST00000699691.1:n.1736del
ENST00000699693.1:n.1256del
ENST00000699694.1:n.1498del
ENST00000699695.1:c.*211del	ENSP00000514526.1:n.*211del
ENST00000699696.1:n.1142del
ENST00000699697.1:c.839del	ENSP00000514527.1:p.Lys280ArgfsTer?
ENST00000699698.1:n.760del
ENST00000699699.1:n.1163del
ENST00000699700.1:n.1286del
ENST00000699701.1:c.*219del	ENSP00000514528.1:n.*219del
ENST00000267415.12:c.839del MANE Select	ENSP00000267415.7:p.Lys280ArgfsTer?
ENST00000557921.2:c.731del	ENSP00000453157.2:p.Lys244ArgfsTer?
ENST00000646753.1:c.734del	ENSP00000494065.1:p.Lys245ArgfsTer?
ENST00000267415.11:c.839del	ENSP00000267415.7:p.Lys280ArgfsTer?
ENST00000399423.8:c.839del	ENSP00000382350.4:p.Lys280ArgfsTer?
ENST00000558476.5:c.401del	ENSP00000452724.1:p.Lys134ArgfsTer?
ENST00000558566.1:c.*211del	ENSP00000453025.1:n.*211del
ENST00000559019.1:c.*211del	ENSP00000453675.1:n.*211del
ENST00000559549.1:n.565del
ENST00000559969.5:c.757+38del
ENST00000626689.2:c.*211del	ENSP00000486681.1:n.*211del
NM_001099274.1:c.839del	NP_001092744.1:p.Lys280ArgfsTer?
NM_012461.2:c.839del	NP_036593.2:p.Lys280ArgfsTer?
XM_005267528.2:c.839del	XP_005267585.1:p.Lys280ArgfsTer?
XM_005267529.2:c.734del	XP_005267586.1:p.Lys245ArgfsTer?
NM_001099274.2:c.839del	NP_001092744.1:p.Lys280ArgfsTer?
NM_001363668.1:c.734del	NP_001350597.1:p.Lys245ArgfsTer?
NM_012461.3:c.839del	NP_036593.2:p.Lys280ArgfsTer?
XM_011536642.2:c.*219del	XP_011534944.1:n.*219del
XM_017021216.2:c.197del	XP_016876705.1:p.Lys66ArgfsTer?
XM_017021217.1:c.197del	XP_016876706.1:p.Lys66ArgfsTer?
NM_001099274.3:c.839del MANE Select	NP_001092744.1:p.Lys280ArgfsTer?
NM_001363668.2:c.734del	NP_001350597.1:p.Lys245ArgfsTer?