Canonical Allele Identifier: CA804305409
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1450332802
gnomAD v3: 5-136045971-ACCAGTTT-A
gnomAD v4: 5-136045971-ACCAGTTT-A
MyVariant Identifiers: chr5:g.135381661_135381667del (hg19) chr5:g.136045972_136045978del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136045973_136045979del , CM000667.2:g.136045973_136045979del GRCh38
NC_000005.9:g.135381662_135381668del , CM000667.1:g.135381662_135381668del GRCh37
NC_000005.8:g.135409561_135409567del NCBI36
NG_012646.1:g.22079_22085del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-362_299-356del MANE Select ENSP00000416330.2:n.299-362_299-356del
ENST00000442011.6:c.299-362_299-356del ENSP00000416330.2:n.299-362_299-356del
ENST00000504185.5:n.456-362_456-356del
ENST00000506699.5:n.364-362_364-356del
ENST00000507018.5:c.216-362_216-356del
ENST00000515433.1:n.229_235del
NM_000358.2:c.299-362_299-356del NP_000349.1:n.299-362_299-356del
NM_000358.3:c.299-362_299-356del MANE Select NP_000349.1:n.299-362_299-356del
Search 100 bp 5'
Search 100 bp 3'