Canonical Allele Identifier: CA2675397212
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136055722-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055727del , CM000667.2:g.136055727del GRCh38
NC_000005.9:g.135391416del , CM000667.1:g.135391416del GRCh37
NC_000005.8:g.135419315del NCBI36
NG_012646.1:g.31833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1458del MANE Select ENSP00000416330.2:p.Arg487GlyfsTer12
ENST00000442011.6:c.1458del ENSP00000416330.2:p.Arg487GlyfsTer12
ENST00000506699.5:n.1975del
ENST00000507018.5:c.1436del
ENST00000509485.5:c.373del
ENST00000514242.5:n.229del
ENST00000514554.5:c.610del
NM_000358.2:c.1458del NP_000349.1:p.Arg487GlyfsTer12
NM_000358.3:c.1458del MANE Select NP_000349.1:p.Arg487GlyfsTer12
Search 100 bp 5'
Search 100 bp 3'