Canonical Allele Identifier: CA917588543

Gene: TGFBI

Linked Data

• dbSNP Id: rs1561609919

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046528_136046538del , CM000667.2:g.136046528_136046538del	GRCh38
NC_000005.9:g.135382217_135382227del , CM000667.1:g.135382217_135382227del	GRCh37
NC_000005.8:g.135410116_135410126del	NCBI36
NG_012646.1:g.22634_22644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.459+33_459+43del MANE Select	ENSP00000416330.2:n.459+33_459+43del
ENST00000442011.6:c.459+33_459+43del	ENSP00000416330.2:n.459+33_459+43del
ENST00000506699.5:n.557_567del
ENST00000507018.5:c.409_419del
ENST00000515433.1:n.784_794del
NM_000358.2:c.459+33_459+43del	NP_000349.1:n.459+33_459+43del
NM_000358.3:c.459+33_459+43del MANE Select	NP_000349.1:n.459+33_459+43del