Canonical Allele Identifier: CA3420421
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs771515402
ExAC: 5:135391453 A / AC
gnomAD v2: 5-135391453-A-AC
gnomAD v3: 5-136055764-A-AC
gnomAD v4: 5-136055764-A-AC
COSMIC: COSM300815 COSM4765433
MyVariant Identifiers: chr5:g.135391454_135391455insC (hg19) chr5:g.135391453_135391454insC (hg19) chr5:g.136055764_136055765insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055771dup , CM000667.2:g.136055771dup GRCh38
NC_000005.9:g.135391460dup , CM000667.1:g.135391460dup GRCh37
NC_000005.8:g.135419359dup NCBI36
NG_012646.1:g.31877dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1502dup MANE Select ENSP00000416330.2:p.Met502AsnfsTer15
ENST00000442011.6:c.1502dup ENSP00000416330.2:p.Met502AsnfsTer15
ENST00000506699.5:n.2019dup
ENST00000507018.5:c.1480dup
ENST00000509485.5:c.417dup
ENST00000514242.5:n.273dup
ENST00000514554.5:c.654dup
NM_000358.2:c.1502dup NP_000349.1:p.Met502AsnfsTer15
NM_000358.3:c.1502dup MANE Select NP_000349.1:p.Met502AsnfsTer15
Search 100 bp 5'
Search 100 bp 3'