Canonical Allele Identifier: CA1584790977

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046312_136046315delinsCCTT , CM000667.2:g.136046312_136046315delinsCCTT	GRCh38
NC_000005.9:g.135382001_135382004delinsCCTT , CM000667.1:g.135382001_135382004delinsCCTT	GRCh37
NC_000005.8:g.135409900_135409903delinsCCTT	NCBI36
NG_012646.1:g.22418_22421delinsCCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.299-23_299-20delinsCCTT MANE Select	ENSP00000416330.2:n.299-23_299-20delinsCCTT
ENST00000442011.6:c.299-23_299-20delinsCCTT	ENSP00000416330.2:n.299-23_299-20delinsCCTT
ENST00000504185.5:n.456-23_456-20delinsCCTT
ENST00000506699.5:n.364-23_364-20delinsCCTT
ENST00000507018.5:c.216-23_216-20delinsCCTT
ENST00000515433.1:n.568_571delinsCCTT
NM_000358.2:c.299-23_299-20delinsCCTT	NP_000349.1:n.299-23_299-20delinsCCTT
NM_000358.3:c.299-23_299-20delinsCCTT MANE Select	NP_000349.1:n.299-23_299-20delinsCCTT