Canonical Allele Identifier: CA1584796817
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055604_136055605delinsCA , CM000667.2:g.136055604_136055605delinsCA GRCh38
NC_000005.9:g.135391293_135391294delinsCA , CM000667.1:g.135391293_135391294delinsCA GRCh37
NC_000005.8:g.135419192_135419193delinsCA NCBI36
NG_012646.1:g.31710_31711delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-76_1411-75delinsCA MANE Select ENSP00000416330.2:n.1411-76_1411-75delinsCA
ENST00000442011.6:c.1411-76_1411-75delinsCA ENSP00000416330.2:n.1411-76_1411-75delinsCA
ENST00000506699.5:n.1928-76_1928-75delinsCA
ENST00000507018.5:c.1389-76_1389-75delinsCA
ENST00000509485.5:c.326-76_326-75delinsCA
ENST00000514242.5:n.106_107delinsCA
ENST00000514554.5:c.563-76_563-75delinsCA
NM_000358.2:c.1411-76_1411-75delinsCA NP_000349.1:n.1411-76_1411-75delinsCA
NM_000358.3:c.1411-76_1411-75delinsCA MANE Select NP_000349.1:n.1411-76_1411-75delinsCA