Canonical Allele Identifier: CA917588522
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1561614539
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136057011del , CM000667.2:g.136057011del GRCh38
NC_000005.9:g.135392700del , CM000667.1:g.135392700del GRCh37
NC_000005.8:g.135420599del NCBI36
NG_012646.1:g.33117del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+216del MANE Select ENSP00000416330.2:n.1678+216del
ENST00000442011.6:c.1678+216del ENSP00000416330.2:n.1678+216del
ENST00000506699.5:n.2195+216del
ENST00000507018.5:c.1656+216del
ENST00000509485.5:c.675+216del
ENST00000514242.5:n.449+216del
ENST00000514554.5:c.830+216del
NM_000358.2:c.1678+216del NP_000349.1:n.1678+216del
NM_000358.3:c.1678+216del MANE Select NP_000349.1:n.1678+216del
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