Canonical Allele Identifier: CA917588523

Gene: TGFBI

Linked Data

• dbSNP Id: rs761407755

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057060_136057061insCCCTTGACAGC , CM000667.2:g.136057060_136057061insCCCTTGACAGC	GRCh38
NC_000005.9:g.135392749_135392750insCCCTTGACAGC , CM000667.1:g.135392749_135392750insCCCTTGACAGC	GRCh37
NC_000005.8:g.135420648_135420649insCCCTTGACAGC	NCBI36
NG_012646.1:g.33166_33167insCCCTTGACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+265_1678+266insCCCTTGACAGC MANE Select	ENSP00000416330.2:n.1678+265_1678+266insCCCTTGACAGC
ENST00000442011.6:c.1678+265_1678+266insCCCTTGACAGC	ENSP00000416330.2:n.1678+265_1678+266insCCCTTGACAGC
ENST00000506699.5:n.2195+265_2195+266insCCCTTGACAGC
ENST00000507018.5:c.1656+265_1656+266insCCCTTGACAGC
ENST00000509485.5:c.675+265_675+266insCCCTTGACAGC
ENST00000514242.5:n.449+265_449+266insCCCTTGACAGC
ENST00000514554.5:c.830+265_830+266insCCCTTGACAGC
NM_000358.2:c.1678+265_1678+266insCCCTTGACAGC	NP_000349.1:n.1678+265_1678+266insCCCTTGACAGC
NM_000358.3:c.1678+265_1678+266insCCCTTGACAGC MANE Select	NP_000349.1:n.1678+265_1678+266insCCCTTGACAGC