Canonical Allele Identifier: CA2566004094

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240527_24240528insCAGCAC , CM000676.2:g.24240527_24240528insCAGCAC	GRCh38
NC_000014.8:g.24709733_24709734insCAGCAC , CM000676.1:g.24709733_24709734insCAGCAC	GRCh37
NC_000014.7:g.23779573_23779574insCAGCAC	NCBI36
NG_016650.1:g.7147_7148insGTGCTG
NG_054634.1:g.13111_13112insCAGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1255_1256insGTGCTG
ENST00000557921.3:c.844_845insGTGCTG	ENSP00000453157.3:p.Met282delinsSerAlaVal
ENST00000699682.1:n.1342_1343insGTGCTG
ENST00000699683.1:n.1392_1393insGTGCTG
ENST00000699684.1:c.*545_*546insGTGCTG	ENSP00000514523.1:n.*545_*546insGTGCTG
ENST00000699685.1:n.1156_1157insGTGCTG
ENST00000699686.1:c.745_746insGTGCTG	ENSP00000514524.1:p.Met249delinsSerAlaVal
ENST00000699687.1:c.847_848insGTGCTG	ENSP00000514525.1:p.Met283delinsSerAlaVal
ENST00000699688.1:n.1152_1153insGTGCTG
ENST00000699689.1:n.1508_1509insGTGCTG
ENST00000699690.1:n.1705_1706insGTGCTG
ENST00000699691.1:n.1849_1850insGTGCTG
ENST00000699693.1:n.1369_1370insGTGCTG
ENST00000699694.1:n.1611_1612insGTGCTG
ENST00000699695.1:c.*324_*325insGTGCTG	ENSP00000514526.1:n.*324_*325insGTGCTG
ENST00000699696.1:n.1255_1256insGTGCTG
ENST00000699697.1:c.952_953insGTGCTG	ENSP00000514527.1:p.Met318delinsSerAlaVal
ENST00000699698.1:n.873_874insGTGCTG
ENST00000699699.1:n.1276_1277insGTGCTG
ENST00000699700.1:n.1399_1400insGTGCTG
ENST00000699701.1:c.*332_*333insGTGCTG	ENSP00000514528.1:n.*332_*333insGTGCTG
ENST00000267415.12:c.952_953insGTGCTG MANE Select	ENSP00000267415.7:p.Met318delinsSerAlaVal
ENST00000557921.2:c.844_845insGTGCTG	ENSP00000453157.2:p.Met282delinsSerAlaVal
ENST00000646753.1:c.847_848insGTGCTG	ENSP00000494065.1:p.Met283delinsSerAlaVal
ENST00000267415.11:c.952_953insGTGCTG	ENSP00000267415.7:p.Met318delinsSerAlaVal
ENST00000399423.8:c.952_953insGTGCTG	ENSP00000382350.4:p.Met318delinsSerAlaVal
ENST00000557915.1:n.71_72insGTGCTG
ENST00000558566.1:c.*324_*325insGTGCTG	ENSP00000453025.1:n.*324_*325insGTGCTG
ENST00000559019.1:c.*324_*325insGTGCTG	ENSP00000453675.1:n.*324_*325insGTGCTG
ENST00000559969.5:c.758-48_758-47insGTGCTG
ENST00000626689.2:c.*324_*325insGTGCTG	ENSP00000486681.1:n.*324_*325insGTGCTG
NM_001099274.1:c.952_953insGTGCTG	NP_001092744.1:p.Met318delinsSerAlaVal
NM_012461.2:c.952_953insGTGCTG	NP_036593.2:p.Met318delinsSerAlaVal
XM_005267528.2:c.952_953insGTGCTG	XP_005267585.1:p.Met318delinsSerAlaVal
XM_005267529.2:c.847_848insGTGCTG	XP_005267586.1:p.Met283delinsSerAlaVal
NM_001099274.2:c.952_953insGTGCTG	NP_001092744.1:p.Met318delinsSerAlaVal
NM_001363668.1:c.847_848insGTGCTG	NP_001350597.1:p.Met283delinsSerAlaVal
NM_012461.3:c.952_953insGTGCTG	NP_036593.2:p.Met318delinsSerAlaVal
XM_011536642.2:c.*332_*333insGTGCTG	XP_011534944.1:n.*332_*333insGTGCTG
XM_017021216.2:c.310_311insGTGCTG	XP_016876705.1:p.Met104delinsSerAlaVal
XM_017021217.1:c.310_311insGTGCTG	XP_016876706.1:p.Met104delinsSerAlaVal
NM_001099274.3:c.952_953insGTGCTG MANE Select	NP_001092744.1:p.Met318delinsSerAlaVal
NM_001363668.2:c.847_848insGTGCTG	NP_001350597.1:p.Met283delinsSerAlaVal