Canonical Allele Identifier: CA128051955
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs964690043
MyVariant Identifiers: chr5:g.135382219_135382220insG (hg19) chr5:g.136046530_136046531insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046534dup , CM000667.2:g.136046534dup GRCh38
NC_000005.9:g.135382223dup , CM000667.1:g.135382223dup GRCh37
NC_000005.8:g.135410122dup NCBI36
NG_012646.1:g.22640dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+39dup MANE Select ENSP00000416330.2:n.459+39dup
ENST00000442011.6:c.459+39dup ENSP00000416330.2:n.459+39dup
ENST00000506699.5:n.563dup
ENST00000507018.5:c.415dup
ENST00000515433.1:n.790dup
NM_000358.2:c.459+39dup NP_000349.1:n.459+39dup
NM_000358.3:c.459+39dup MANE Select NP_000349.1:n.459+39dup
Search 100 bp 5'
Search 100 bp 3'