Canonical Allele Identifier: CA2580087957

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2066739
• ClinVar RCV Id: RCV002966218

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240452_24240453del , CM000676.2:g.24240452_24240453del	GRCh38
NC_000014.8:g.24709658_24709659del , CM000676.1:g.24709658_24709659del	GRCh37
NC_000014.7:g.23779498_23779499del	NCBI36
NG_016650.1:g.7222_7223del
NG_054634.1:g.13036_13037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1330_1331del
ENST00000557921.3:c.919_920del	ENSP00000453157.3:p.Asn307ProfsTer3
ENST00000699682.1:n.1417_1418del
ENST00000699683.1:n.1467_1468del
ENST00000699684.1:c.*620_*621del	ENSP00000514523.1:n.*620_*621del
ENST00000699685.1:n.1231_1232del
ENST00000699686.1:c.820_821del	ENSP00000514524.1:p.Asn274ProfsTer3
ENST00000699687.1:c.922_923del	ENSP00000514525.1:p.Asn308ProfsTer3
ENST00000699688.1:n.1227_1228del
ENST00000699689.1:n.1583_1584del
ENST00000699690.1:n.1780_1781del
ENST00000699691.1:n.1924_1925del
ENST00000699693.1:n.1444_1445del
ENST00000699694.1:n.1686_1687del
ENST00000699695.1:c.*399_*400del	ENSP00000514526.1:n.*399_*400del
ENST00000699696.1:n.1330_1331del
ENST00000699697.1:c.1027_1028del	ENSP00000514527.1:p.Asn343ProfsTer3
ENST00000699698.1:n.948_949del
ENST00000699699.1:n.1351_1352del
ENST00000699700.1:n.1474_1475del
ENST00000699701.1:c.*407_*408del	ENSP00000514528.1:n.*407_*408del
ENST00000267415.12:c.1027_1028del MANE Select	ENSP00000267415.7:p.Asn343ProfsTer3
ENST00000646753.1:c.922_923del	ENSP00000494065.1:p.Asn308ProfsTer3
ENST00000267415.11:c.1027_1028del	ENSP00000267415.7:p.Asn343ProfsTer3
ENST00000399423.8:c.1027_1028del	ENSP00000382350.4:p.Asn343ProfsTer3
ENST00000557915.1:n.146_147del
ENST00000558566.1:c.*399_*400del	ENSP00000453025.1:n.*399_*400del
ENST00000559969.5:c.785_786del
ENST00000560019.5:c.22_23del	ENSP00000453113.1:p.Asn8ProfsTer3
ENST00000626689.2:c.*399_*400del	ENSP00000486681.1:n.*399_*400del
NM_001099274.1:c.1027_1028del	NP_001092744.1:p.Asn343ProfsTer3
NM_012461.2:c.1027_1028del	NP_036593.2:p.Asn343ProfsTer3
XM_005267528.2:c.1027_1028del	XP_005267585.1:p.Asn343ProfsTer3
XM_005267529.2:c.922_923del	XP_005267586.1:p.Asn308ProfsTer3
NM_001099274.2:c.1027_1028del	NP_001092744.1:p.Asn343ProfsTer3
NM_001363668.1:c.922_923del	NP_001350597.1:p.Asn308ProfsTer3
NM_012461.3:c.1027_1028del	NP_036593.2:p.Asn343ProfsTer3
XM_011536642.2:c.*407_*408del	XP_011534944.1:n.*407_*408del
XM_017021216.2:c.385_386del	XP_016876705.1:p.Asn129ProfsTer3
XM_017021217.1:c.385_386del	XP_016876706.1:p.Asn129ProfsTer3
NM_001099274.3:c.1027_1028del MANE Select	NP_001092744.1:p.Asn343ProfsTer3
NM_001363668.2:c.922_923del	NP_001350597.1:p.Asn308ProfsTer3