Canonical Allele Identifier: CA7130505

Gene: TINF2

Linked Data

• dbSNP Id: rs765528010
• ExAC: 14:24709533 A / AT
• MyVariant Identifiers: chr14:g.24709533_24709534insT (hg19) ; chr14:g.24240327_24240328insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240329dup , CM000676.2:g.24240329dup	GRCh38
NC_000014.8:g.24709535dup , CM000676.1:g.24709535dup	GRCh37
NC_000014.7:g.23779375dup	NCBI36
NG_016650.1:g.7347dup
NG_054634.1:g.12913dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1455dup
ENST00000557921.3:c.*87dup	ENSP00000453157.3:n.*87dup
ENST00000699682.1:n.1542dup
ENST00000699683.1:n.1592dup
ENST00000699684.1:c.*745dup	ENSP00000514523.1:n.*745dup
ENST00000699685.1:n.1356dup
ENST00000699686.1:c.*87dup	ENSP00000514524.1:n.*87dup
ENST00000699687.1:c.*87dup	ENSP00000514525.1:n.*87dup
ENST00000699688.1:n.1352dup
ENST00000699689.1:n.1708dup
ENST00000699690.1:n.1905dup
ENST00000699691.1:n.2049dup
ENST00000699692.1:n.3dup
ENST00000699693.1:n.1481dup
ENST00000699694.1:n.1811dup
ENST00000699695.1:c.*436dup	ENSP00000514526.1:n.*436dup
ENST00000699696.1:n.1455dup
ENST00000699697.1:c.1064dup	ENSP00000514527.1:p.Asn355LysfsTer18
ENST00000699698.1:n.985dup
ENST00000699699.1:n.1476dup
ENST00000699700.1:n.1599dup
ENST00000699701.1:c.*532dup	ENSP00000514528.1:n.*532dup
ENST00000267415.12:c.1064dup MANE Select	ENSP00000267415.7:p.Asn355LysfsTer18
ENST00000646753.1:c.959dup	ENSP00000494065.1:p.Asn320LysfsTer18
ENST00000267415.11:c.1064dup	ENSP00000267415.7:p.Asn355LysfsTer18
ENST00000399423.8:c.*87dup	ENSP00000382350.4:n.*87dup
ENST00000557915.1:n.271dup
ENST00000558566.1:c.*524dup	ENSP00000453025.1:n.*524dup
ENST00000559969.5:c.910dup
ENST00000560019.5:c.59dup	ENSP00000453113.1:p.Asn20LysfsTer18
ENST00000626689.2:c.*436dup	ENSP00000486681.1:n.*436dup
NM_001099274.1:c.1064dup	NP_001092744.1:p.Asn355LysfsTer18
NM_012461.2:c.*87dup	NP_036593.2:n.*87dup
XM_005267528.2:c.1064dup	XP_005267585.1:p.Asn355LysfsTer18
XM_005267529.2:c.959dup	XP_005267586.1:p.Asn320LysfsTer18
NM_001099274.2:c.1064dup	NP_001092744.1:p.Asn355LysfsTer18
NM_001363668.1:c.959dup	NP_001350597.1:p.Asn320LysfsTer18
NM_012461.3:c.*87dup	NP_036593.2:n.*87dup
XM_011536642.2:c.*532dup	XP_011534944.1:n.*532dup
XM_017021216.2:c.422dup	XP_016876705.1:p.Asn141LysfsTer18
XM_017021217.1:c.422dup	XP_016876706.1:p.Asn141LysfsTer18
NM_001099274.3:c.1064dup MANE Select	NP_001092744.1:p.Asn355LysfsTer18
NM_001363668.2:c.959dup	NP_001350597.1:p.Asn320LysfsTer18