Canonical Allele Identifier: CA2695213963

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240592del , CM000676.2:g.24240592del	GRCh38
NC_000014.8:g.24709798del , CM000676.1:g.24709798del	GRCh37
NC_000014.7:g.23779638del	NCBI36
NG_016650.1:g.7084del
NG_054634.1:g.13176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1192del
ENST00000557921.3:c.781del	ENSP00000453157.3:p.Thr261ProfsTer20
ENST00000699682.1:n.1279del
ENST00000699683.1:n.1329del
ENST00000699684.1:c.*482del	ENSP00000514523.1:n.*482del
ENST00000699685.1:n.1093del
ENST00000699686.1:c.682del	ENSP00000514524.1:p.Thr228ProfsTer20
ENST00000699687.1:c.784del	ENSP00000514525.1:p.Thr262ProfsTer20
ENST00000699688.1:n.1089del
ENST00000699689.1:n.1445del
ENST00000699690.1:n.1642del
ENST00000699691.1:n.1786del
ENST00000699693.1:n.1306del
ENST00000699694.1:n.1548del
ENST00000699695.1:c.*261del	ENSP00000514526.1:n.*261del
ENST00000699696.1:n.1192del
ENST00000699697.1:c.889del	ENSP00000514527.1:p.Thr297ProfsTer20
ENST00000699698.1:n.810del
ENST00000699699.1:n.1213del
ENST00000699700.1:n.1336del
ENST00000699701.1:c.*269del	ENSP00000514528.1:n.*269del
ENST00000267415.12:c.889del MANE Select	ENSP00000267415.7:p.Thr297ProfsTer20
ENST00000557921.2:c.781del	ENSP00000453157.2:p.Thr261ProfsTer20
ENST00000646753.1:c.784del	ENSP00000494065.1:p.Thr262ProfsTer20
ENST00000267415.11:c.889del	ENSP00000267415.7:p.Thr297ProfsTer20
ENST00000399423.8:c.889del	ENSP00000382350.4:p.Thr297ProfsTer20
ENST00000557915.1:n.8del
ENST00000558566.1:c.*261del	ENSP00000453025.1:n.*261del
ENST00000559019.1:c.*261del	ENSP00000453675.1:n.*261del
ENST00000559549.1:n.615del
ENST00000559969.5:c.757+88del
ENST00000626689.2:c.*261del	ENSP00000486681.1:n.*261del
NM_001099274.1:c.889del	NP_001092744.1:p.Thr297ProfsTer20
NM_012461.2:c.889del	NP_036593.2:p.Thr297ProfsTer20
XM_005267528.2:c.889del	XP_005267585.1:p.Thr297ProfsTer20
XM_005267529.2:c.784del	XP_005267586.1:p.Thr262ProfsTer20
NM_001099274.2:c.889del	NP_001092744.1:p.Thr297ProfsTer20
NM_001363668.1:c.784del	NP_001350597.1:p.Thr262ProfsTer20
NM_012461.3:c.889del	NP_036593.2:p.Thr297ProfsTer20
XM_011536642.2:c.*269del	XP_011534944.1:n.*269del
XM_017021216.2:c.247del	XP_016876705.1:p.Thr83ProfsTer20
XM_017021217.1:c.247del	XP_016876706.1:p.Thr83ProfsTer20
NM_001099274.3:c.889del MANE Select	NP_001092744.1:p.Thr297ProfsTer20
NM_001363668.2:c.784del	NP_001350597.1:p.Thr262ProfsTer20