Canonical Allele Identifier: CA1584798713

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057105_136057106delinsGA , CM000667.2:g.136057105_136057106delinsGA	GRCh38
NC_000005.9:g.135392794_135392795delinsGA , CM000667.1:g.135392794_135392795delinsGA	GRCh37
NC_000005.8:g.135420693_135420694delinsGA	NCBI36
NG_012646.1:g.33211_33212delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+310_1678+311delinsGA MANE Select	ENSP00000416330.2:n.1678+310_1678+311delinsGA
ENST00000442011.6:c.1678+310_1678+311delinsGA	ENSP00000416330.2:n.1678+310_1678+311delinsGA
ENST00000506699.5:n.2195+310_2195+311delinsGA
ENST00000507018.5:c.1656+310_1656+311delinsGA
ENST00000509485.5:c.675+310_675+311delinsGA
ENST00000514242.5:n.449+310_449+311delinsGA
ENST00000514554.5:c.830+310_830+311delinsGA
NM_000358.2:c.1678+310_1678+311delinsGA	NP_000349.1:n.1678+310_1678+311delinsGA
NM_000358.3:c.1678+310_1678+311delinsGA MANE Select	NP_000349.1:n.1678+310_1678+311delinsGA