Canonical Allele Identifier: CA1584790902
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046181_136046182delinsTA , CM000667.2:g.136046181_136046182delinsTA GRCh38
NC_000005.9:g.135381870_135381871delinsTA , CM000667.1:g.135381870_135381871delinsTA GRCh37
NC_000005.8:g.135409769_135409770delinsTA NCBI36
NG_012646.1:g.22287_22288delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-154_299-153delinsTA MANE Select ENSP00000416330.2:n.299-154_299-153delinsTA
ENST00000442011.6:c.299-154_299-153delinsTA ENSP00000416330.2:n.299-154_299-153delinsTA
ENST00000504185.5:n.456-154_456-153delinsTA
ENST00000506699.5:n.364-154_364-153delinsTA
ENST00000507018.5:c.216-154_216-153delinsTA
ENST00000515433.1:n.437_438delinsTA
NM_000358.2:c.299-154_299-153delinsTA NP_000349.1:n.299-154_299-153delinsTA
NM_000358.3:c.299-154_299-153delinsTA MANE Select NP_000349.1:n.299-154_299-153delinsTA