Canonical Allele Identifier: CA3420045
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs750382706
ExAC: 5:135382226 CT / C
gnomAD v2: 5-135382226-CT-C
gnomAD v3: 5-136046537-CT-C
gnomAD v4: 5-136046537-CT-C
MyVariant Identifiers: chr5:g.135382227del (hg19) chr5:g.136046538del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046538del , CM000667.2:g.136046538del GRCh38
NC_000005.9:g.135382227del , CM000667.1:g.135382227del GRCh37
NC_000005.8:g.135410126del NCBI36
NG_012646.1:g.22644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+43del MANE Select ENSP00000416330.2:n.459+43del
ENST00000442011.6:c.459+43del ENSP00000416330.2:n.459+43del
ENST00000506699.5:n.567del
ENST00000507018.5:c.419del
ENST00000515433.1:n.794del
NM_000358.2:c.459+43del NP_000349.1:n.459+43del
NM_000358.3:c.459+43del MANE Select NP_000349.1:n.459+43del
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