Canonical Allele Identifier: CA2695213968
Gene: TINF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240625_24240629del , CM000676.2:g.24240625_24240629del GRCh38
NC_000014.8:g.24709831_24709835del , CM000676.1:g.24709831_24709835del GRCh37
NC_000014.7:g.23779671_23779675del NCBI36
NG_016650.1:g.7046_7050del
NG_054634.1:g.13209_13213del

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1154_1158del
ENST00000557921.3:c.743_747del ENSP00000453157.3:p.Thr248AsnfsTer6
ENST00000699682.1:n.1241_1245del
ENST00000699683.1:n.1291_1295del
ENST00000699684.1:c.*444_*448del ENSP00000514523.1:n.*444_*448del
ENST00000699685.1:n.1055_1059del
ENST00000699686.1:c.644_648del ENSP00000514524.1:p.Thr215AsnfsTer6
ENST00000699687.1:c.746_750del ENSP00000514525.1:p.Thr249AsnfsTer6
ENST00000699688.1:n.1051_1055del
ENST00000699689.1:n.1407_1411del
ENST00000699690.1:n.1604_1608del
ENST00000699691.1:n.1748_1752del
ENST00000699693.1:n.1268_1272del
ENST00000699694.1:n.1510_1514del
ENST00000699695.1:c.*223_*227del ENSP00000514526.1:n.*223_*227del
ENST00000699696.1:n.1154_1158del
ENST00000699697.1:c.851_855del ENSP00000514527.1:p.Thr284AsnfsTer6
ENST00000699698.1:n.772_776del
ENST00000699699.1:n.1175_1179del
ENST00000699700.1:n.1298_1302del
ENST00000699701.1:c.*231_*235del ENSP00000514528.1:n.*231_*235del
ENST00000267415.12:c.851_855del MANE Select ENSP00000267415.7:p.Thr284AsnfsTer6
ENST00000557921.2:c.743_747del ENSP00000453157.2:p.Thr248AsnfsTer6
ENST00000646753.1:c.746_750del ENSP00000494065.1:p.Thr249AsnfsTer6
ENST00000267415.11:c.851_855del ENSP00000267415.7:p.Thr284AsnfsTer6
ENST00000399423.8:c.851_855del ENSP00000382350.4:p.Thr284AsnfsTer6
ENST00000558476.5:c.413_417del ENSP00000452724.1:p.Thr138AsnfsTer6
ENST00000558566.1:c.*223_*227del ENSP00000453025.1:n.*223_*227del
ENST00000559019.1:c.*223_*227del ENSP00000453675.1:n.*223_*227del
ENST00000559549.1:n.577_581del
ENST00000559969.5:c.757+50_757+54del
ENST00000626689.2:c.*223_*227del ENSP00000486681.1:n.*223_*227del
NM_001099274.1:c.851_855del NP_001092744.1:p.Thr284AsnfsTer6
NM_012461.2:c.851_855del NP_036593.2:p.Thr284AsnfsTer6
XM_005267528.2:c.851_855del XP_005267585.1:p.Thr284AsnfsTer6
XM_005267529.2:c.746_750del XP_005267586.1:p.Thr249AsnfsTer6
NM_001099274.2:c.851_855del NP_001092744.1:p.Thr284AsnfsTer6
NM_001363668.1:c.746_750del NP_001350597.1:p.Thr249AsnfsTer6
NM_012461.3:c.851_855del NP_036593.2:p.Thr284AsnfsTer6
XM_011536642.2:c.*231_*235del XP_011534944.1:n.*231_*235del
XM_017021216.2:c.209_213del XP_016876705.1:p.Thr70AsnfsTer6
XM_017021217.1:c.209_213del XP_016876706.1:p.Thr70AsnfsTer6
NM_001099274.3:c.851_855del MANE Select NP_001092744.1:p.Thr284AsnfsTer6
NM_001363668.2:c.746_750del NP_001350597.1:p.Thr249AsnfsTer6