Canonical Allele Identifier: CA1081884231

Gene: TGFBI

Linked Data

• dbSNP Id: rs1751657579
• gnomAD v3: 5-136057103-CAG-C
• gnomAD v4: 5-136057103-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057105_136057106del , CM000667.2:g.136057105_136057106del	GRCh38
NC_000005.9:g.135392794_135392795del , CM000667.1:g.135392794_135392795del	GRCh37
NC_000005.8:g.135420693_135420694del	NCBI36
NG_012646.1:g.33211_33212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+310_1678+311del MANE Select	ENSP00000416330.2:n.1678+310_1678+311del
ENST00000442011.6:c.1678+310_1678+311del	ENSP00000416330.2:n.1678+310_1678+311del
ENST00000506699.5:n.2195+310_2195+311del
ENST00000507018.5:c.1656+310_1656+311del
ENST00000509485.5:c.675+310_675+311del
ENST00000514242.5:n.449+310_449+311del
ENST00000514554.5:c.830+310_830+311del
NM_000358.2:c.1678+310_1678+311del	NP_000349.1:n.1678+310_1678+311del
NM_000358.3:c.1678+310_1678+311del MANE Select	NP_000349.1:n.1678+310_1678+311del