Canonical Allele Identifier: CA2768529356

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056866_136056867insCACCCAACACA , CM000667.2:g.136056866_136056867insCACCCAACACA	GRCh38
NC_000005.9:g.135392555_135392556insCACCCAACACA , CM000667.1:g.135392555_135392556insCACCCAACACA	GRCh37
NC_000005.8:g.135420454_135420455insCACCCAACACA	NCBI36
NG_012646.1:g.32972_32973insCACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+71_1678+72insCACCCAACACA MANE Select	ENSP00000416330.2:n.1678+71_1678+72insCACCCAACACA
ENST00000442011.6:c.1678+71_1678+72insCACCCAACACA	ENSP00000416330.2:n.1678+71_1678+72insCACCCAACACA
ENST00000506699.5:n.2195+71_2195+72insCACCCAACACA
ENST00000507018.5:c.1656+71_1656+72insCACCCAACACA
ENST00000509485.5:c.675+71_675+72insCACCCAACACA
ENST00000514242.5:n.449+71_449+72insCACCCAACACA
ENST00000514554.5:c.830+71_830+72insCACCCAACACA
NM_000358.2:c.1678+71_1678+72insCACCCAACACA	NP_000349.1:n.1678+71_1678+72insCACCCAACACA
NM_000358.3:c.1678+71_1678+72insCACCCAACACA MANE Select	NP_000349.1:n.1678+71_1678+72insCACCCAACACA