Canonical Allele Identifier: CA1584790819
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136045978_136045979delinsTC , CM000667.2:g.136045978_136045979delinsTC GRCh38
NC_000005.9:g.135381667_135381668delinsTC , CM000667.1:g.135381667_135381668delinsTC GRCh37
NC_000005.8:g.135409566_135409567delinsTC NCBI36
NG_012646.1:g.22084_22085delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-357_299-356delinsTC MANE Select ENSP00000416330.2:n.299-357_299-356delinsTC
ENST00000442011.6:c.299-357_299-356delinsTC ENSP00000416330.2:n.299-357_299-356delinsTC
ENST00000504185.5:n.456-357_456-356delinsTC
ENST00000506699.5:n.364-357_364-356delinsTC
ENST00000507018.5:c.216-357_216-356delinsTC
ENST00000515433.1:n.234_235delinsTC
NM_000358.2:c.299-357_299-356delinsTC NP_000349.1:n.299-357_299-356delinsTC
NM_000358.3:c.299-357_299-356delinsTC MANE Select NP_000349.1:n.299-357_299-356delinsTC