Canonical Allele Identifier: CA128059280

Gene: TGFBI

Linked Data

• dbSNP Id: rs764714628
• MyVariant Identifiers: chr5:g.135392750_135392751insACAGCT (hg19) ; chr5:g.136057061_136057062insACAGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057061_136057062insACAGCT , CM000667.2:g.136057061_136057062insACAGCT	GRCh38
NC_000005.9:g.135392750_135392751insACAGCT , CM000667.1:g.135392750_135392751insACAGCT	GRCh37
NC_000005.8:g.135420649_135420650insACAGCT	NCBI36
NG_012646.1:g.33167_33168insACAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+266_1678+267insACAGCT MANE Select	ENSP00000416330.2:n.1678+266_1678+267insACAGCT
ENST00000442011.6:c.1678+266_1678+267insACAGCT	ENSP00000416330.2:n.1678+266_1678+267insACAGCT
ENST00000506699.5:n.2195+266_2195+267insACAGCT
ENST00000507018.5:c.1656+266_1656+267insACAGCT
ENST00000509485.5:c.675+266_675+267insACAGCT
ENST00000514242.5:n.449+266_449+267insACAGCT
ENST00000514554.5:c.830+266_830+267insACAGCT
NM_000358.2:c.1678+266_1678+267insACAGCT	NP_000349.1:n.1678+266_1678+267insACAGCT
NM_000358.3:c.1678+266_1678+267insACAGCT MANE Select	NP_000349.1:n.1678+266_1678+267insACAGCT