Canonical Allele Identifier: CA804305474
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1445909065
gnomAD v3: 5-136046181-TA-T
gnomAD v4: 5-136046181-TA-T
MyVariant Identifiers: chr5:g.135381871del (hg19) chr5:g.136046182del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046183del , CM000667.2:g.136046183del GRCh38
NC_000005.9:g.135381872del , CM000667.1:g.135381872del GRCh37
NC_000005.8:g.135409771del NCBI36
NG_012646.1:g.22289del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-152del MANE Select ENSP00000416330.2:n.299-152del
ENST00000442011.6:c.299-152del ENSP00000416330.2:n.299-152del
ENST00000504185.5:n.456-152del
ENST00000506699.5:n.364-152del
ENST00000507018.5:c.216-152del
ENST00000515433.1:n.439del
NM_000358.2:c.299-152del NP_000349.1:n.299-152del
NM_000358.3:c.299-152del MANE Select NP_000349.1:n.299-152del
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