Canonical Allele Identifier: CA1584791091

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046534_136046536delinsGAA , CM000667.2:g.136046534_136046536delinsGAA	GRCh38
NC_000005.9:g.135382223_135382225delinsGAA , CM000667.1:g.135382223_135382225delinsGAA	GRCh37
NC_000005.8:g.135410122_135410124delinsGAA	NCBI36
NG_012646.1:g.22640_22642delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.459+39_459+41delinsGAA MANE Select	ENSP00000416330.2:n.459+39_459+41delinsGAA
ENST00000442011.6:c.459+39_459+41delinsGAA	ENSP00000416330.2:n.459+39_459+41delinsGAA
ENST00000506699.5:n.563_565delinsGAA
ENST00000507018.5:c.415_417delinsGAA
ENST00000515433.1:n.790_792delinsGAA
NM_000358.2:c.459+39_459+41delinsGAA	NP_000349.1:n.459+39_459+41delinsGAA
NM_000358.3:c.459+39_459+41delinsGAA MANE Select	NP_000349.1:n.459+39_459+41delinsGAA