Canonical Allele Identifier: CA485782289

Gene: TINF2

Linked Data

• dbSNP Id: rs1248255884
• gnomAD v2: 14-24709693-TGG-T
• gnomAD v4: 14-24240487-TGG-T
• MyVariant Identifiers: chr14:g.24709694_24709695del (hg19) ; chr14:g.24240488_24240489del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240488_24240489del , CM000676.2:g.24240488_24240489del	GRCh38
NC_000014.8:g.24709694_24709695del , CM000676.1:g.24709694_24709695del	GRCh37
NC_000014.7:g.23779534_23779535del	NCBI36
NG_016650.1:g.7186_7187del
NG_054634.1:g.13072_13073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1294_1295del
ENST00000557921.3:c.883_884del	ENSP00000453157.3:p.Pro295MetfsTer15
ENST00000699682.1:n.1381_1382del
ENST00000699683.1:n.1431_1432del
ENST00000699684.1:c.*584_*585del	ENSP00000514523.1:n.*584_*585del
ENST00000699685.1:n.1195_1196del
ENST00000699686.1:c.784_785del	ENSP00000514524.1:p.Pro262MetfsTer15
ENST00000699687.1:c.886_887del	ENSP00000514525.1:p.Pro296MetfsTer15
ENST00000699688.1:n.1191_1192del
ENST00000699689.1:n.1547_1548del
ENST00000699690.1:n.1744_1745del
ENST00000699691.1:n.1888_1889del
ENST00000699693.1:n.1408_1409del
ENST00000699694.1:n.1650_1651del
ENST00000699695.1:c.*363_*364del	ENSP00000514526.1:n.*363_*364del
ENST00000699696.1:n.1294_1295del
ENST00000699697.1:c.991_992del	ENSP00000514527.1:p.Pro331MetfsTer15
ENST00000699698.1:n.912_913del
ENST00000699699.1:n.1315_1316del
ENST00000699700.1:n.1438_1439del
ENST00000699701.1:c.*371_*372del	ENSP00000514528.1:n.*371_*372del
ENST00000267415.12:c.991_992del MANE Select	ENSP00000267415.7:p.Pro331MetfsTer15
ENST00000646753.1:c.886_887del	ENSP00000494065.1:p.Pro296MetfsTer15
ENST00000267415.11:c.991_992del	ENSP00000267415.7:p.Pro331MetfsTer15
ENST00000399423.8:c.991_992del	ENSP00000382350.4:p.Pro331MetfsTer15
ENST00000557915.1:n.110_111del
ENST00000558566.1:c.*363_*364del	ENSP00000453025.1:n.*363_*364del
ENST00000559019.1:c.*363_*364del	ENSP00000453675.1:n.*363_*364del
ENST00000559969.5:c.758-9_758-8del
ENST00000626689.2:c.*363_*364del	ENSP00000486681.1:n.*363_*364del
NM_001099274.1:c.991_992del	NP_001092744.1:p.Pro331MetfsTer15
NM_012461.2:c.991_992del	NP_036593.2:p.Pro331MetfsTer15
XM_005267528.2:c.991_992del	XP_005267585.1:p.Pro331MetfsTer15
XM_005267529.2:c.886_887del	XP_005267586.1:p.Pro296MetfsTer15
NM_001099274.2:c.991_992del	NP_001092744.1:p.Pro331MetfsTer15
NM_001363668.1:c.886_887del	NP_001350597.1:p.Pro296MetfsTer15
NM_012461.3:c.991_992del	NP_036593.2:p.Pro331MetfsTer15
XM_011536642.2:c.*371_*372del	XP_011534944.1:n.*371_*372del
XM_017021216.2:c.349_350del	XP_016876705.1:p.Pro117MetfsTer15
XM_017021217.1:c.349_350del	XP_016876706.1:p.Pro117MetfsTer15
NM_001099274.3:c.991_992del MANE Select	NP_001092744.1:p.Pro331MetfsTer15
NM_001363668.2:c.886_887del	NP_001350597.1:p.Pro296MetfsTer15