Canonical Allele Identifier: CA2695213965

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240615dup , CM000676.2:g.24240615dup	GRCh38
NC_000014.8:g.24709821dup , CM000676.1:g.24709821dup	GRCh37
NC_000014.7:g.23779661dup	NCBI36
NG_016650.1:g.7062dup
NG_054634.1:g.13199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1170dup
ENST00000557921.3:c.759dup	ENSP00000453157.3:p.Phe254LeufsTer2
ENST00000699682.1:n.1257dup
ENST00000699683.1:n.1307dup
ENST00000699684.1:c.*460dup	ENSP00000514523.1:n.*460dup
ENST00000699685.1:n.1071dup
ENST00000699686.1:c.660dup	ENSP00000514524.1:p.Phe221LeufsTer2
ENST00000699687.1:c.762dup	ENSP00000514525.1:p.Phe255LeufsTer2
ENST00000699688.1:n.1067dup
ENST00000699689.1:n.1423dup
ENST00000699690.1:n.1620dup
ENST00000699691.1:n.1764dup
ENST00000699693.1:n.1284dup
ENST00000699694.1:n.1526dup
ENST00000699695.1:c.*239dup	ENSP00000514526.1:n.*239dup
ENST00000699696.1:n.1170dup
ENST00000699697.1:c.867dup	ENSP00000514527.1:p.Phe290LeufsTer2
ENST00000699698.1:n.788dup
ENST00000699699.1:n.1191dup
ENST00000699700.1:n.1314dup
ENST00000699701.1:c.*247dup	ENSP00000514528.1:n.*247dup
ENST00000267415.12:c.867dup MANE Select	ENSP00000267415.7:p.Phe290LeufsTer2
ENST00000557921.2:c.759dup	ENSP00000453157.2:p.Phe254LeufsTer2
ENST00000646753.1:c.762dup	ENSP00000494065.1:p.Phe255LeufsTer2
ENST00000267415.11:c.867dup	ENSP00000267415.7:p.Phe290LeufsTer2
ENST00000399423.8:c.867dup	ENSP00000382350.4:p.Phe290LeufsTer2
ENST00000558476.5:c.429dup	ENSP00000452724.1:p.Phe144LeufsTer2
ENST00000558566.1:c.*239dup	ENSP00000453025.1:n.*239dup
ENST00000559019.1:c.*239dup	ENSP00000453675.1:n.*239dup
ENST00000559549.1:n.593dup
ENST00000559969.5:c.757+66dup
ENST00000626689.2:c.*239dup	ENSP00000486681.1:n.*239dup
NM_001099274.1:c.867dup	NP_001092744.1:p.Phe290LeufsTer2
NM_012461.2:c.867dup	NP_036593.2:p.Phe290LeufsTer2
XM_005267528.2:c.867dup	XP_005267585.1:p.Phe290LeufsTer2
XM_005267529.2:c.762dup	XP_005267586.1:p.Phe255LeufsTer2
NM_001099274.2:c.867dup	NP_001092744.1:p.Phe290LeufsTer2
NM_001363668.1:c.762dup	NP_001350597.1:p.Phe255LeufsTer2
NM_012461.3:c.867dup	NP_036593.2:p.Phe290LeufsTer2
XM_011536642.2:c.*247dup	XP_011534944.1:n.*247dup
XM_017021216.2:c.225dup	XP_016876705.1:p.Phe76LeufsTer2
XM_017021217.1:c.225dup	XP_016876706.1:p.Phe76LeufsTer2
NM_001099274.3:c.867dup MANE Select	NP_001092744.1:p.Phe290LeufsTer2
NM_001363668.2:c.762dup	NP_001350597.1:p.Phe255LeufsTer2