Canonical Allele Identifier: CA7130560
Gene: TINF2 HGNC NCBI

Linked Data

dbSNP Id: rs777178703

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240681_24240683del , CM000676.2:g.24240681_24240683del GRCh38
NC_000014.8:g.24709887_24709889del , CM000676.1:g.24709887_24709889del GRCh37
NC_000014.7:g.23779727_23779729del NCBI36
NG_016650.1:g.6994_6996del
NG_054634.1:g.13265_13267del

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1102_1104del
ENST00000557921.3:c.691_693del ENSP00000453157.3:p.Arg231del
ENST00000699682.1:n.1189_1191del
ENST00000699683.1:n.1239_1241del
ENST00000699684.1:c.*392_*394del ENSP00000514523.1:n.*392_*394del
ENST00000699685.1:n.1003_1005del
ENST00000699686.1:c.592_594del ENSP00000514524.1:p.Arg198del
ENST00000699687.1:c.694_696del ENSP00000514525.1:p.Arg232del
ENST00000699688.1:n.999_1001del
ENST00000699689.1:n.1355_1357del
ENST00000699690.1:n.1552_1554del
ENST00000699691.1:n.1696_1698del
ENST00000699693.1:n.1216_1218del
ENST00000699694.1:n.1458_1460del
ENST00000699695.1:c.*171_*173del ENSP00000514526.1:n.*171_*173del
ENST00000699696.1:n.1102_1104del
ENST00000699697.1:c.799_801del ENSP00000514527.1:p.Arg267del
ENST00000699698.1:n.720_722del
ENST00000699699.1:n.1123_1125del
ENST00000699700.1:n.1246_1248del
ENST00000699701.1:c.*179_*181del ENSP00000514528.1:n.*179_*181del
ENST00000267415.12:c.799_801del MANE Select ENSP00000267415.7:p.Arg267del
ENST00000557921.2:c.691_693del ENSP00000453157.2:p.Arg231del
ENST00000646753.1:c.694_696del ENSP00000494065.1:p.Arg232del
ENST00000267415.11:c.799_801del ENSP00000267415.7:p.Arg267del
ENST00000399423.8:c.799_801del ENSP00000382350.4:p.Arg267del
ENST00000558476.5:c.361_363del ENSP00000452724.1:p.Arg121del
ENST00000558566.1:c.*171_*173del ENSP00000453025.1:n.*171_*173del
ENST00000559019.1:c.*171_*173del ENSP00000453675.1:n.*171_*173del
ENST00000559549.1:n.525_527del
ENST00000559969.5:c.755_757del
ENST00000626689.2:c.*171_*173del ENSP00000486681.1:n.*171_*173del
NM_001099274.1:c.799_801del NP_001092744.1:p.Arg267del
NM_012461.2:c.799_801del NP_036593.2:p.Arg267del
XM_005267528.2:c.799_801del XP_005267585.1:p.Arg267del
XM_005267529.2:c.694_696del XP_005267586.1:p.Arg232del
NM_001099274.2:c.799_801del NP_001092744.1:p.Arg267del
NM_001363668.1:c.694_696del NP_001350597.1:p.Arg232del
NM_012461.3:c.799_801del NP_036593.2:p.Arg267del
XM_011536642.2:c.*179_*181del XP_011534944.1:n.*179_*181del
XM_017021216.2:c.157_159del XP_016876705.1:p.Arg53del
XM_017021217.1:c.157_159del XP_016876706.1:p.Arg53del
NM_001099274.3:c.799_801del MANE Select NP_001092744.1:p.Arg267del
NM_001363668.2:c.694_696del NP_001350597.1:p.Arg232del