Canonical Allele Identifier: CA995955621

Gene: TGFB1

Linked Data

• dbSNP Id: rs1421637264
• gnomAD v3: 19-41342383-GCTCT-G
• gnomAD v4: 19-41342383-GCTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342388_41342391del , CM000681.2:g.41342388_41342391del	GRCh38
NC_000019.9:g.41848293_41848296del , CM000681.1:g.41848293_41848296del	GRCh37
NC_000019.8:g.46540133_46540136del	NCBI36
NG_013364.1:g.16540_16543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.635-140_635-137del MANE Select	ENSP00000221930.4:n.635-140_635-137del
ENST00000600196.2:c.635-140_635-137del	ENSP00000504008.1:n.635-140_635-137del
ENST00000677934.1:c.634+2360_634+2363del	ENSP00000504769.1:n.634+2360_634+2363del
ENST00000221930.5:c.635-140_635-137del	ENSP00000221930.4:n.635-140_635-137del
ENST00000597453.1:n.166-140_166-137del
ENST00000600196.1:n.95-140_95-137del
NM_000660.5:c.635-140_635-137del	NP_000651.3:n.635-140_635-137del
XM_011527242.1:c.635-140_635-137del	XP_011525544.1:n.635-140_635-137del
NM_000660.6:c.635-140_635-137del	NP_000651.3:n.635-140_635-137del
XM_011527242.2:c.635-140_635-137del	XP_011525544.1:n.635-140_635-137del
NM_000660.7:c.635-140_635-137del MANE Select	NP_000651.3:n.635-140_635-137del