Canonical Allele Identifier: CA2768529357

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056863_136056864insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG , CM000667.2:g.136056863_136056864insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG	GRCh38
NC_000005.9:g.135392552_135392553insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG , CM000667.1:g.135392552_135392553insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG	GRCh37
NC_000005.8:g.135420451_135420452insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG	NCBI36
NG_012646.1:g.32969_32970insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+68_1678+69insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG MANE Select	ENSP00000416330.2:n.1678+68_1678+69insCGGAGGGCATGAAAACCAAGGTG...
ENST00000442011.6:c.1678+68_1678+69insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG	ENSP00000416330.2:n.1678+68_1678+69insCGGAGGGCATGAAAACCAAGGTG...
ENST00000506699.5:n.2195+68_2195+69insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG
ENST00000507018.5:c.1656+68_1656+69insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG
ENST00000509485.5:c.675+68_675+69insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG
ENST00000514242.5:n.449+68_449+69insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG
ENST00000514554.5:c.830+68_830+69insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG
NM_000358.2:c.1678+68_1678+69insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG	NP_000349.1:n.1678+68_1678+69insCGGAGGGCATGAAAACCAAGGTGTGTGCA...
NM_000358.3:c.1678+68_1678+69insCGGAGGGCATGAAAACCAAGGTGTGTGCATTCCAGTGGCCTGG MANE Select	NP_000349.1:n.1678+68_1678+69insCGGAGGGCATGAAAACCAAGGTGTGTGCA...