Canonical Allele Identifier: CA1584798702

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057098_136057103delinsACTGTC , CM000667.2:g.136057098_136057103delinsACTGTC	GRCh38
NC_000005.9:g.135392787_135392792delinsACTGTC , CM000667.1:g.135392787_135392792delinsACTGTC	GRCh37
NC_000005.8:g.135420686_135420691delinsACTGTC	NCBI36
NG_012646.1:g.33204_33209delinsACTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+303_1678+308delinsACTGTC MANE Select	ENSP00000416330.2:n.1678+303_1678+308delinsACTGTC
ENST00000442011.6:c.1678+303_1678+308delinsACTGTC	ENSP00000416330.2:n.1678+303_1678+308delinsACTGTC
ENST00000506699.5:n.2195+303_2195+308delinsACTGTC
ENST00000507018.5:c.1656+303_1656+308delinsACTGTC
ENST00000509485.5:c.675+303_675+308delinsACTGTC
ENST00000514242.5:n.449+303_449+308delinsACTGTC
ENST00000514554.5:c.830+303_830+308delinsACTGTC
NM_000358.2:c.1678+303_1678+308delinsACTGTC	NP_000349.1:n.1678+303_1678+308delinsACTGTC
NM_000358.3:c.1678+303_1678+308delinsACTGTC MANE Select	NP_000349.1:n.1678+303_1678+308delinsACTGTC