Canonical Allele Identifier: CA7130524

Gene: TINF2

Linked Data

• dbSNP Id: rs752581458
• ExAC: 14:24709641 CA / C
• gnomAD v2: 14-24709641-CA-C
• gnomAD v4: 14-24240435-CA-C
• MyVariant Identifiers: chr14:g.24709642del (hg19) ; chr14:g.24240436del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240436del , CM000676.2:g.24240436del	GRCh38
NC_000014.8:g.24709642del , CM000676.1:g.24709642del	GRCh37
NC_000014.7:g.23779482del	NCBI36
NG_016650.1:g.7239del
NG_054634.1:g.13020del

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1347del
ENST00000557921.3:c.936del	ENSP00000453157.3:p.Ala313ProfsTer15
ENST00000699682.1:n.1434del
ENST00000699683.1:n.1484del
ENST00000699684.1:c.*637del	ENSP00000514523.1:n.*637del
ENST00000699685.1:n.1248del
ENST00000699686.1:c.837del	ENSP00000514524.1:p.Ala280ProfsTer15
ENST00000699687.1:c.939del	ENSP00000514525.1:p.Ala314ProfsTer15
ENST00000699688.1:n.1244del
ENST00000699689.1:n.1600del
ENST00000699690.1:n.1797del
ENST00000699691.1:n.1941del
ENST00000699693.1:n.1461del
ENST00000699694.1:n.1703del
ENST00000699695.1:c.*416del	ENSP00000514526.1:n.*416del
ENST00000699696.1:n.1347del
ENST00000699697.1:c.1044del	ENSP00000514527.1:p.Ala349ProfsTer16
ENST00000699698.1:n.965del
ENST00000699699.1:n.1368del
ENST00000699700.1:n.1491del
ENST00000699701.1:c.*424del	ENSP00000514528.1:n.*424del
ENST00000267415.12:c.1044del MANE Select	ENSP00000267415.7:p.Ala349ProfsTer16
ENST00000646753.1:c.939del	ENSP00000494065.1:p.Ala314ProfsTer16
ENST00000267415.11:c.1044del	ENSP00000267415.7:p.Ala349ProfsTer16
ENST00000399423.8:c.1044del	ENSP00000382350.4:p.Ala349ProfsTer15
ENST00000557915.1:n.163del
ENST00000558566.1:c.*416del	ENSP00000453025.1:n.*416del
ENST00000559969.5:c.802del
ENST00000560019.5:c.39del	ENSP00000453113.1:p.Ala14ProfsTer16
ENST00000626689.2:c.*416del	ENSP00000486681.1:n.*416del
NM_001099274.1:c.1044del	NP_001092744.1:p.Ala349ProfsTer16
NM_012461.2:c.1044del	NP_036593.2:p.Ala349ProfsTer15
XM_005267528.2:c.1044del	XP_005267585.1:p.Ala349ProfsTer16
XM_005267529.2:c.939del	XP_005267586.1:p.Ala314ProfsTer16
NM_001099274.2:c.1044del	NP_001092744.1:p.Ala349ProfsTer16
NM_001363668.1:c.939del	NP_001350597.1:p.Ala314ProfsTer16
NM_012461.3:c.1044del	NP_036593.2:p.Ala349ProfsTer15
XM_011536642.2:c.*424del	XP_011534944.1:n.*424del
XM_017021216.2:c.402del	XP_016876705.1:p.Ala135ProfsTer16
XM_017021217.1:c.402del	XP_016876706.1:p.Ala135ProfsTer16
NM_001099274.3:c.1044del MANE Select	NP_001092744.1:p.Ala349ProfsTer16
NM_001363668.2:c.939del	NP_001350597.1:p.Ala314ProfsTer16