Canonical Allele Identifier: CA128051474
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs963214781
gnomAD v3: 5-136045978-TC-T
gnomAD v4: 5-136045978-TC-T
MyVariant Identifiers: chr5:g.135381668del (hg19) chr5:g.136045979del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136045979del , CM000667.2:g.136045979del GRCh38
NC_000005.9:g.135381668del , CM000667.1:g.135381668del GRCh37
NC_000005.8:g.135409567del NCBI36
NG_012646.1:g.22085del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-356del MANE Select ENSP00000416330.2:n.299-356del
ENST00000442011.6:c.299-356del ENSP00000416330.2:n.299-356del
ENST00000504185.5:n.456-356del
ENST00000506699.5:n.364-356del
ENST00000507018.5:c.216-356del
ENST00000515433.1:n.235del
NM_000358.2:c.299-356del NP_000349.1:n.299-356del
NM_000358.3:c.299-356del MANE Select NP_000349.1:n.299-356del
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Search 100 bp 3'