Canonical Allele Identifier: CA1584798711

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057103_136057105delinsCAG , CM000667.2:g.136057103_136057105delinsCAG	GRCh38
NC_000005.9:g.135392792_135392794delinsCAG , CM000667.1:g.135392792_135392794delinsCAG	GRCh37
NC_000005.8:g.135420691_135420693delinsCAG	NCBI36
NG_012646.1:g.33209_33211delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+308_1678+310delinsCAG MANE Select	ENSP00000416330.2:n.1678+308_1678+310delinsCAG
ENST00000442011.6:c.1678+308_1678+310delinsCAG	ENSP00000416330.2:n.1678+308_1678+310delinsCAG
ENST00000506699.5:n.2195+308_2195+310delinsCAG
ENST00000507018.5:c.1656+308_1656+310delinsCAG
ENST00000509485.5:c.675+308_675+310delinsCAG
ENST00000514242.5:n.449+308_449+310delinsCAG
ENST00000514554.5:c.830+308_830+310delinsCAG
NM_000358.2:c.1678+308_1678+310delinsCAG	NP_000349.1:n.1678+308_1678+310delinsCAG
NM_000358.3:c.1678+308_1678+310delinsCAG MANE Select	NP_000349.1:n.1678+308_1678+310delinsCAG