Canonical Allele Identifier: CA2675399082

Gene: TGFBI

Linked Data

• gnomAD v4: 5-136060819-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136060821_136060822del , CM000667.2:g.136060821_136060822del	GRCh38
NC_000005.9:g.135396510_135396511del , CM000667.1:g.135396510_135396511del	GRCh37
NC_000005.8:g.135424409_135424410del	NCBI36
NG_012646.1:g.36927_36928del

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.1804-13_1804-12del MANE Select	ENSP00000416330.2:n.1804-13_1804-12del
ENST00000442011.6:c.1804-13_1804-12del	ENSP00000416330.2:n.1804-13_1804-12del
ENST00000503087.1:c.30-13_30-12del
ENST00000506699.5:n.2321-13_2321-12del
ENST00000507018.5:c.1782-13_1782-12del
ENST00000508076.5:c.-51-13_-51-12del	ENSP00000423935.1:n.-51-13_-51-12del
ENST00000513497.1:n.449-13_449-12del
ENST00000514554.5:c.956-13_956-12del
NM_000358.2:c.1804-13_1804-12del	NP_000349.1:n.1804-13_1804-12del
NM_000358.3:c.1804-13_1804-12del MANE Select	NP_000349.1:n.1804-13_1804-12del