Canonical Allele Identifier: CA2695213969

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240626del , CM000676.2:g.24240626del	GRCh38
NC_000014.8:g.24709832del , CM000676.1:g.24709832del	GRCh37
NC_000014.7:g.23779672del	NCBI36
NG_016650.1:g.7049del
NG_054634.1:g.13210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1157del
ENST00000557921.3:c.746del	ENSP00000453157.3:p.Val249AlafsTer?
ENST00000699682.1:n.1244del
ENST00000699683.1:n.1294del
ENST00000699684.1:c.*447del	ENSP00000514523.1:n.*447del
ENST00000699685.1:n.1058del
ENST00000699686.1:c.647del	ENSP00000514524.1:p.Val216AlafsTer?
ENST00000699687.1:c.749del	ENSP00000514525.1:p.Val250AlafsTer?
ENST00000699688.1:n.1054del
ENST00000699689.1:n.1410del
ENST00000699690.1:n.1607del
ENST00000699691.1:n.1751del
ENST00000699693.1:n.1271del
ENST00000699694.1:n.1513del
ENST00000699695.1:c.*226del	ENSP00000514526.1:n.*226del
ENST00000699696.1:n.1157del
ENST00000699697.1:c.854del	ENSP00000514527.1:p.Val285AlafsTer?
ENST00000699698.1:n.775del
ENST00000699699.1:n.1178del
ENST00000699700.1:n.1301del
ENST00000699701.1:c.*234del	ENSP00000514528.1:n.*234del
ENST00000267415.12:c.854del MANE Select	ENSP00000267415.7:p.Val285AlafsTer?
ENST00000557921.2:c.746del	ENSP00000453157.2:p.Val249AlafsTer?
ENST00000646753.1:c.749del	ENSP00000494065.1:p.Val250AlafsTer?
ENST00000267415.11:c.854del	ENSP00000267415.7:p.Val285AlafsTer?
ENST00000399423.8:c.854del	ENSP00000382350.4:p.Val285AlafsTer?
ENST00000558476.5:c.416del	ENSP00000452724.1:p.Val139AlafsTer?
ENST00000558566.1:c.*226del	ENSP00000453025.1:n.*226del
ENST00000559019.1:c.*226del	ENSP00000453675.1:n.*226del
ENST00000559549.1:n.580del
ENST00000559969.5:c.757+53del
ENST00000626689.2:c.*226del	ENSP00000486681.1:n.*226del
NM_001099274.1:c.854del	NP_001092744.1:p.Val285AlafsTer?
NM_012461.2:c.854del	NP_036593.2:p.Val285AlafsTer?
XM_005267528.2:c.854del	XP_005267585.1:p.Val285AlafsTer?
XM_005267529.2:c.749del	XP_005267586.1:p.Val250AlafsTer?
NM_001099274.2:c.854del	NP_001092744.1:p.Val285AlafsTer?
NM_001363668.1:c.749del	NP_001350597.1:p.Val250AlafsTer?
NM_012461.3:c.854del	NP_036593.2:p.Val285AlafsTer?
XM_011536642.2:c.*234del	XP_011534944.1:n.*234del
XM_017021216.2:c.212del	XP_016876705.1:p.Val71AlafsTer?
XM_017021217.1:c.212del	XP_016876706.1:p.Val71AlafsTer?
NM_001099274.3:c.854del MANE Select	NP_001092744.1:p.Val285AlafsTer?
NM_001363668.2:c.749del	NP_001350597.1:p.Val250AlafsTer?