Canonical Allele Identifier: CA1584790903
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046183_136046184delinsAG , CM000667.2:g.136046183_136046184delinsAG GRCh38
NC_000005.9:g.135381872_135381873delinsAG , CM000667.1:g.135381872_135381873delinsAG GRCh37
NC_000005.8:g.135409771_135409772delinsAG NCBI36
NG_012646.1:g.22289_22290delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-152_299-151delinsAG MANE Select ENSP00000416330.2:n.299-152_299-151delinsAG
ENST00000442011.6:c.299-152_299-151delinsAG ENSP00000416330.2:n.299-152_299-151delinsAG
ENST00000504185.5:n.456-152_456-151delinsAG
ENST00000506699.5:n.364-152_364-151delinsAG
ENST00000507018.5:c.216-152_216-151delinsAG
ENST00000515433.1:n.439_440delinsAG
NM_000358.2:c.299-152_299-151delinsAG NP_000349.1:n.299-152_299-151delinsAG
NM_000358.3:c.299-152_299-151delinsAG MANE Select NP_000349.1:n.299-152_299-151delinsAG