Canonical Allele Identifier: CA1584796872

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055650_136055654delinsCCTTT , CM000667.2:g.136055650_136055654delinsCCTTT	GRCh38
NC_000005.9:g.135391339_135391343delinsCCTTT , CM000667.1:g.135391339_135391343delinsCCTTT	GRCh37
NC_000005.8:g.135419238_135419242delinsCCTTT	NCBI36
NG_012646.1:g.31756_31760delinsCCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1411-30_1411-26delinsCCTTT MANE Select	ENSP00000416330.2:n.1411-30_1411-26delinsCCTTT
ENST00000442011.6:c.1411-30_1411-26delinsCCTTT	ENSP00000416330.2:n.1411-30_1411-26delinsCCTTT
ENST00000506699.5:n.1928-30_1928-26delinsCCTTT
ENST00000507018.5:c.1389-30_1389-26delinsCCTTT
ENST00000509485.5:c.326-30_326-26delinsCCTTT
ENST00000514242.5:n.152_156delinsCCTTT
ENST00000514554.5:c.563-30_563-26delinsCCTTT
NM_000358.2:c.1411-30_1411-26delinsCCTTT	NP_000349.1:n.1411-30_1411-26delinsCCTTT
NM_000358.3:c.1411-30_1411-26delinsCCTTT MANE Select	NP_000349.1:n.1411-30_1411-26delinsCCTTT