Canonical Allele Identifier: CA2675393614

Gene: TGFBI

Linked Data

• gnomAD v4: 5-136046329-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046330dup , CM000667.2:g.136046330dup	GRCh38
NC_000005.9:g.135382019dup , CM000667.1:g.135382019dup	GRCh37
NC_000005.8:g.135409918dup	NCBI36
NG_012646.1:g.22436dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.299-5dup MANE Select	ENSP00000416330.2:n.299-5dup
ENST00000442011.6:c.299-5dup	ENSP00000416330.2:n.299-5dup
ENST00000504185.5:n.456-5dup
ENST00000506699.5:n.364-5dup
ENST00000507018.5:c.216-5dup
ENST00000515433.1:n.586dup
NM_000358.2:c.299-5dup	NP_000349.1:n.299-5dup
NM_000358.3:c.299-5dup MANE Select	NP_000349.1:n.299-5dup