Canonical Allele Identifier: CA645580794
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240630_24240631del , CM000676.2:g.24240630_24240631del GRCh38
NC_000014.8:g.24709836_24709837del , CM000676.1:g.24709836_24709837del GRCh37
NC_000014.7:g.23779676_23779677del NCBI36
NG_016650.1:g.7046_7047del
NG_054634.1:g.13214_13215del

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1154_1155del
ENST00000557921.3:c.743_744del ENSP00000453157.3:p.Thr248SerfsTer7
ENST00000699682.1:n.1241_1242del
ENST00000699683.1:n.1291_1292del
ENST00000699684.1:c.*444_*445del ENSP00000514523.1:n.*444_*445del
ENST00000699685.1:n.1055_1056del
ENST00000699686.1:c.644_645del ENSP00000514524.1:p.Thr215SerfsTer7
ENST00000699687.1:c.746_747del ENSP00000514525.1:p.Thr249SerfsTer7
ENST00000699688.1:n.1051_1052del
ENST00000699689.1:n.1407_1408del
ENST00000699690.1:n.1604_1605del
ENST00000699691.1:n.1748_1749del
ENST00000699693.1:n.1268_1269del
ENST00000699694.1:n.1510_1511del
ENST00000699695.1:c.*223_*224del ENSP00000514526.1:n.*223_*224del
ENST00000699696.1:n.1154_1155del
ENST00000699697.1:c.851_852del ENSP00000514527.1:p.Thr284SerfsTer7
ENST00000699698.1:n.772_773del
ENST00000699699.1:n.1175_1176del
ENST00000699700.1:n.1298_1299del
ENST00000699701.1:c.*231_*232del ENSP00000514528.1:n.*231_*232del
ENST00000267415.12:c.851_852del MANE Select ENSP00000267415.7:p.Thr284SerfsTer7
ENST00000557921.2:c.743_744del ENSP00000453157.2:p.Thr248SerfsTer7
ENST00000646753.1:c.746_747del ENSP00000494065.1:p.Thr249SerfsTer7
ENST00000267415.11:c.851_852del ENSP00000267415.7:p.Thr284SerfsTer7
ENST00000399423.8:c.851_852del ENSP00000382350.4:p.Thr284SerfsTer7
ENST00000558476.5:c.413_414del ENSP00000452724.1:p.Thr138SerfsTer7
ENST00000558566.1:c.*223_*224del ENSP00000453025.1:n.*223_*224del
ENST00000559019.1:c.*223_*224del ENSP00000453675.1:n.*223_*224del
ENST00000559549.1:n.577_578del
ENST00000559969.5:c.757+50_757+51del
ENST00000626689.2:c.*223_*224del ENSP00000486681.1:n.*223_*224del
NM_001099274.1:c.851_852del NP_001092744.1:p.Thr284SerfsTer7
NM_012461.2:c.851_852del NP_036593.2:p.Thr284SerfsTer7
XM_005267528.2:c.851_852del XP_005267585.1:p.Thr284SerfsTer7
XM_005267529.2:c.746_747del XP_005267586.1:p.Thr249SerfsTer7
NM_001099274.2:c.851_852del NP_001092744.1:p.Thr284SerfsTer7
NM_001363668.1:c.746_747del NP_001350597.1:p.Thr249SerfsTer7
NM_012461.3:c.851_852del NP_036593.2:p.Thr284SerfsTer7
XM_011536642.2:c.*231_*232del XP_011534944.1:n.*231_*232del
XM_017021216.2:c.209_210del XP_016876705.1:p.Thr70SerfsTer7
XM_017021217.1:c.209_210del XP_016876706.1:p.Thr70SerfsTer7
NM_001099274.3:c.851_852del MANE Select NP_001092744.1:p.Thr284SerfsTer7
NM_001363668.2:c.746_747del NP_001350597.1:p.Thr249SerfsTer7