Canonical Allele Identifier: CA2838400948

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055704dup , CM000667.2:g.136055704dup	GRCh38
NC_000005.9:g.135391393dup , CM000667.1:g.135391393dup	GRCh37
NC_000005.8:g.135419292dup	NCBI36
NG_012646.1:g.31810dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1435dup MANE Select	ENSP00000416330.2:p.Ile479AsnfsTer?
ENST00000442011.6:c.1435dup	ENSP00000416330.2:p.Ile479AsnfsTer?
ENST00000506699.5:n.1952dup
ENST00000507018.5:c.1413dup
ENST00000509485.5:c.350dup
ENST00000514242.5:n.206dup
ENST00000514554.5:c.587dup
NM_000358.2:c.1435dup	NP_000349.1:p.Ile479AsnfsTer?
NM_000358.3:c.1435dup MANE Select	NP_000349.1:p.Ile479AsnfsTer?