Canonical Allele Identifier: CA2675398378

Gene: TGFBI

Linked Data

• gnomAD v4: 5-136056915-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056916del , CM000667.2:g.136056916del	GRCh38
NC_000005.9:g.135392605del , CM000667.1:g.135392605del	GRCh37
NC_000005.8:g.135420504del	NCBI36
NG_012646.1:g.33022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+121del MANE Select	ENSP00000416330.2:n.1678+121del
ENST00000442011.6:c.1678+121del	ENSP00000416330.2:n.1678+121del
ENST00000506699.5:n.2195+121del
ENST00000507018.5:c.1656+121del
ENST00000509485.5:c.675+121del
ENST00000514242.5:n.449+121del
ENST00000514554.5:c.830+121del
NM_000358.2:c.1678+121del	NP_000349.1:n.1678+121del
NM_000358.3:c.1678+121del MANE Select	NP_000349.1:n.1678+121del