Canonical Allele Identifier: CA1584791093

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046537_136046538delinsCT , CM000667.2:g.136046537_136046538delinsCT	GRCh38
NC_000005.9:g.135382226_135382227delinsCT , CM000667.1:g.135382226_135382227delinsCT	GRCh37
NC_000005.8:g.135410125_135410126delinsCT	NCBI36
NG_012646.1:g.22643_22644delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.459+42_459+43delinsCT MANE Select	ENSP00000416330.2:n.459+42_459+43delinsCT
ENST00000442011.6:c.459+42_459+43delinsCT	ENSP00000416330.2:n.459+42_459+43delinsCT
ENST00000506699.5:n.566_567delinsCT
ENST00000507018.5:c.418_419delinsCT
ENST00000515433.1:n.793_794delinsCT
NM_000358.2:c.459+42_459+43delinsCT	NP_000349.1:n.459+42_459+43delinsCT
NM_000358.3:c.459+42_459+43delinsCT MANE Select	NP_000349.1:n.459+42_459+43delinsCT