Canonical Allele Identifier: CA1081908567
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751421621
gnomAD v3: 5-136046123-GT-G
gnomAD v4: 5-136046123-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046125del , CM000667.2:g.136046125del GRCh38
NC_000005.9:g.135381814del , CM000667.1:g.135381814del GRCh37
NC_000005.8:g.135409713del NCBI36
NG_012646.1:g.22231del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-210del MANE Select ENSP00000416330.2:n.299-210del
ENST00000442011.6:c.299-210del ENSP00000416330.2:n.299-210del
ENST00000504185.5:n.456-210del
ENST00000506699.5:n.364-210del
ENST00000507018.5:c.216-210del
ENST00000515433.1:n.381del
NM_000358.2:c.299-210del NP_000349.1:n.299-210del
NM_000358.3:c.299-210del MANE Select NP_000349.1:n.299-210del
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Search 100 bp 3'