Canonical Allele Identifier: CA389223912
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240489_24240490del , CM000676.2:g.24240489_24240490del GRCh38
NC_000014.8:g.24709695_24709696del , CM000676.1:g.24709695_24709696del GRCh37
NC_000014.7:g.23779535_23779536del NCBI36
NG_016650.1:g.7185_7186del
NG_054634.1:g.13073_13074del

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1293_1294del
ENST00000557921.3:c.882_883del ENSP00000453157.3:p.Pro295MetfsTer15
ENST00000699682.1:n.1380_1381del
ENST00000699683.1:n.1430_1431del
ENST00000699684.1:c.*583_*584del ENSP00000514523.1:n.*583_*584del
ENST00000699685.1:n.1194_1195del
ENST00000699686.1:c.783_784del ENSP00000514524.1:p.Pro262MetfsTer15
ENST00000699687.1:c.885_886del ENSP00000514525.1:p.Pro296MetfsTer15
ENST00000699688.1:n.1190_1191del
ENST00000699689.1:n.1546_1547del
ENST00000699690.1:n.1743_1744del
ENST00000699691.1:n.1887_1888del
ENST00000699693.1:n.1407_1408del
ENST00000699694.1:n.1649_1650del
ENST00000699695.1:c.*362_*363del ENSP00000514526.1:n.*362_*363del
ENST00000699696.1:n.1293_1294del
ENST00000699697.1:c.990_991del ENSP00000514527.1:p.Pro331MetfsTer15
ENST00000699698.1:n.911_912del
ENST00000699699.1:n.1314_1315del
ENST00000699700.1:n.1437_1438del
ENST00000699701.1:c.*370_*371del ENSP00000514528.1:n.*370_*371del
ENST00000267415.12:c.990_991del MANE Select ENSP00000267415.7:p.Pro331MetfsTer15
ENST00000646753.1:c.885_886del ENSP00000494065.1:p.Pro296MetfsTer15
ENST00000267415.11:c.990_991del ENSP00000267415.7:p.Pro331MetfsTer15
ENST00000399423.8:c.990_991del ENSP00000382350.4:p.Pro331MetfsTer15
ENST00000557915.1:n.109_110del
ENST00000558566.1:c.*362_*363del ENSP00000453025.1:n.*362_*363del
ENST00000559019.1:c.*362_*363del ENSP00000453675.1:n.*362_*363del
ENST00000559969.5:c.758-10_758-9del
ENST00000626689.2:c.*362_*363del ENSP00000486681.1:n.*362_*363del
NM_001099274.1:c.990_991del NP_001092744.1:p.Pro331MetfsTer15
NM_012461.2:c.990_991del NP_036593.2:p.Pro331MetfsTer15
XM_005267528.2:c.990_991del XP_005267585.1:p.Pro331MetfsTer15
XM_005267529.2:c.885_886del XP_005267586.1:p.Pro296MetfsTer15
NM_001099274.2:c.990_991del NP_001092744.1:p.Pro331MetfsTer15
NM_001363668.1:c.885_886del NP_001350597.1:p.Pro296MetfsTer15
NM_012461.3:c.990_991del NP_036593.2:p.Pro331MetfsTer15
XM_011536642.2:c.*370_*371del XP_011534944.1:n.*370_*371del
XM_017021216.2:c.348_349del XP_016876705.1:p.Pro117MetfsTer15
XM_017021217.1:c.348_349del XP_016876706.1:p.Pro117MetfsTer15
NM_001099274.3:c.990_991del MANE Select NP_001092744.1:p.Pro331MetfsTer15
NM_001363668.2:c.885_886del NP_001350597.1:p.Pro296MetfsTer15