Canonical Allele Identifier: CA2675393537

Gene: TGFBI

Linked Data

• gnomAD v4: 5-136046179-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046181del , CM000667.2:g.136046181del	GRCh38
NC_000005.9:g.135381870del , CM000667.1:g.135381870del	GRCh37
NC_000005.8:g.135409769del	NCBI36
NG_012646.1:g.22287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.299-154del MANE Select	ENSP00000416330.2:n.299-154del
ENST00000442011.6:c.299-154del	ENSP00000416330.2:n.299-154del
ENST00000504185.5:n.456-154del
ENST00000506699.5:n.364-154del
ENST00000507018.5:c.216-154del
ENST00000515433.1:n.437del
NM_000358.2:c.299-154del	NP_000349.1:n.299-154del
NM_000358.3:c.299-154del MANE Select	NP_000349.1:n.299-154del