Canonical Allele Identifier: CA2675398392

Gene: TGFBI

Linked Data

• gnomAD v4: 5-136056935-TAAAGGAACTAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056942_136056953del , CM000667.2:g.136056942_136056953del	GRCh38
NC_000005.9:g.135392631_135392642del , CM000667.1:g.135392631_135392642del	GRCh37
NC_000005.8:g.135420530_135420541del	NCBI36
NG_012646.1:g.33048_33059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+147_1678+158del MANE Select	ENSP00000416330.2:n.1678+147_1678+158del
ENST00000442011.6:c.1678+147_1678+158del	ENSP00000416330.2:n.1678+147_1678+158del
ENST00000506699.5:n.2195+147_2195+158del
ENST00000507018.5:c.1656+147_1656+158del
ENST00000509485.5:c.675+147_675+158del
ENST00000514242.5:n.449+147_449+158del
ENST00000514554.5:c.830+147_830+158del
NM_000358.2:c.1678+147_1678+158del	NP_000349.1:n.1678+147_1678+158del
NM_000358.3:c.1678+147_1678+158del MANE Select	NP_000349.1:n.1678+147_1678+158del