Canonical Allele Identifier: CA1584790880

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046123_136046124delinsGT , CM000667.2:g.136046123_136046124delinsGT	GRCh38
NC_000005.9:g.135381812_135381813delinsGT , CM000667.1:g.135381812_135381813delinsGT	GRCh37
NC_000005.8:g.135409711_135409712delinsGT	NCBI36
NG_012646.1:g.22229_22230delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.299-212_299-211delinsGT MANE Select	ENSP00000416330.2:n.299-212_299-211delinsGT
ENST00000442011.6:c.299-212_299-211delinsGT	ENSP00000416330.2:n.299-212_299-211delinsGT
ENST00000504185.5:n.456-212_456-211delinsGT
ENST00000506699.5:n.364-212_364-211delinsGT
ENST00000507018.5:c.216-212_216-211delinsGT
ENST00000515433.1:n.379_380delinsGT
NM_000358.2:c.299-212_299-211delinsGT	NP_000349.1:n.299-212_299-211delinsGT
NM_000358.3:c.299-212_299-211delinsGT MANE Select	NP_000349.1:n.299-212_299-211delinsGT