Canonical Allele Identifier: CA2580616572
Gene: TINF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1094642
ClinVar RCV Id: RCV001415195
dbSNP Id: rs2138996774

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240346_24240349del , CM000676.2:g.24240346_24240349del GRCh38
NC_000014.8:g.24709552_24709555del , CM000676.1:g.24709552_24709555del GRCh37
NC_000014.7:g.23779392_23779395del NCBI36
NG_016650.1:g.7331_7334del
NG_054634.1:g.12930_12933del

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1439_1442del
ENST00000557921.3:c.*71_*74del ENSP00000453157.3:n.*71_*74del
ENST00000699682.1:n.1526_1529del
ENST00000699683.1:n.1576_1579del
ENST00000699684.1:c.*729_*732del ENSP00000514523.1:n.*729_*732del
ENST00000699685.1:n.1340_1343del
ENST00000699686.1:c.*71_*74del ENSP00000514524.1:n.*71_*74del
ENST00000699687.1:c.*71_*74del ENSP00000514525.1:n.*71_*74del
ENST00000699688.1:n.1336_1339del
ENST00000699689.1:n.1692_1695del
ENST00000699690.1:n.1889_1892del
ENST00000699691.1:n.2033_2036del
ENST00000699693.1:n.1479-14_1479-11del
ENST00000699694.1:n.1795_1798del
ENST00000699695.1:c.*434-14_*434-11del ENSP00000514526.1:n.*434-14_*434-11del
ENST00000699696.1:n.1439_1442del
ENST00000699697.1:c.1062-14_1062-11del ENSP00000514527.1:n.1062-14_1062-11del
ENST00000699698.1:n.983-14_983-11del
ENST00000699699.1:n.1460_1463del
ENST00000699700.1:n.1583_1586del
ENST00000699701.1:c.*516_*519del ENSP00000514528.1:n.*516_*519del
ENST00000267415.12:c.1062-14_1062-11del MANE Select ENSP00000267415.7:n.1062-14_1062-11del
ENST00000646753.1:c.957-14_957-11del ENSP00000494065.1:n.957-14_957-11del
ENST00000267415.11:c.1062-14_1062-11del ENSP00000267415.7:n.1062-14_1062-11del
ENST00000399423.8:c.*71_*74del ENSP00000382350.4:n.*71_*74del
ENST00000557915.1:n.255_258del
ENST00000558566.1:c.*508_*511del ENSP00000453025.1:n.*508_*511del
ENST00000559969.5:c.894_897del
ENST00000560019.5:c.57-14_57-11del ENSP00000453113.1:n.57-14_57-11del
ENST00000626689.2:c.*434-14_*434-11del ENSP00000486681.1:n.*434-14_*434-11del
NM_001099274.1:c.1062-14_1062-11del NP_001092744.1:n.1062-14_1062-11del
NM_012461.2:c.*71_*74del NP_036593.2:n.*71_*74del
XM_005267528.2:c.1062-14_1062-11del XP_005267585.1:n.1062-14_1062-11del
XM_005267529.2:c.957-14_957-11del XP_005267586.1:n.957-14_957-11del
NM_001099274.2:c.1062-14_1062-11del NP_001092744.1:n.1062-14_1062-11del
NM_001363668.1:c.957-14_957-11del NP_001350597.1:n.957-14_957-11del
NM_012461.3:c.*71_*74del NP_036593.2:n.*71_*74del
XM_011536642.2:c.*516_*519del XP_011534944.1:n.*516_*519del
XM_017021216.2:c.420-14_420-11del XP_016876705.1:n.420-14_420-11del
XM_017021217.1:c.420-14_420-11del XP_016876706.1:n.420-14_420-11del
NM_001099274.3:c.1062-14_1062-11del MANE Select NP_001092744.1:n.1062-14_1062-11del
NM_001363668.2:c.957-14_957-11del NP_001350597.1:n.957-14_957-11del