Canonical Allele Identifier: CA2695205182

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136060898_136060899delinsAT , CM000667.2:g.136060898_136060899delinsAT	GRCh38
NC_000005.9:g.135396587_135396588delinsAT , CM000667.1:g.135396587_135396588delinsAT	GRCh37
NC_000005.8:g.135424486_135424487delinsAT	NCBI36
NG_012646.1:g.37004_37005delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1868_1869delinsAT MANE Select	ENSP00000416330.2:p.Gly623Asp
ENST00000442011.6:c.1868_1869delinsAT	ENSP00000416330.2:p.Gly623Asp
ENST00000503087.1:c.94_95delinsAT
ENST00000506699.5:n.2385_2386delinsAT
ENST00000507018.5:c.1846_1847delinsAT
ENST00000508076.5:c.14_15delinsAT	ENSP00000423935.1:p.Gly5Asp
ENST00000513497.1:n.513_514delinsAT
ENST00000514554.5:c.1020_1021delinsAT
NM_000358.2:c.1868_1869delinsAT	NP_000349.1:p.Gly623Asp
NM_000358.3:c.1868_1869delinsAT MANE Select	NP_000349.1:p.Gly623Asp