Canonical Allele Identifier: CA2839264838

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055713dup , CM000667.2:g.136055713dup	GRCh38
NC_000005.9:g.135391402dup , CM000667.1:g.135391402dup	GRCh37
NC_000005.8:g.135419301dup	NCBI36
NG_012646.1:g.31819dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1444dup MANE Select	ENSP00000416330.2:p.His482ProfsTer?
ENST00000442011.6:c.1444dup	ENSP00000416330.2:p.His482ProfsTer?
ENST00000506699.5:n.1961dup
ENST00000507018.5:c.1422dup
ENST00000509485.5:c.359dup
ENST00000514242.5:n.215dup
ENST00000514554.5:c.596dup
NM_000358.2:c.1444dup	NP_000349.1:p.His482ProfsTer?
NM_000358.3:c.1444dup MANE Select	NP_000349.1:p.His482ProfsTer?