Canonical Allele Identifier: CA2336421217

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038067932
• gnomAD v4: 19-41342386-CTCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342388_41342392del , CM000681.2:g.41342388_41342392del	GRCh38
NC_000019.9:g.41848293_41848297del , CM000681.1:g.41848293_41848297del	GRCh37
NC_000019.8:g.46540133_46540137del	NCBI36
NG_013364.1:g.16536_16540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.635-144_635-140del MANE Select	ENSP00000221930.4:n.635-144_635-140del
ENST00000600196.2:c.635-144_635-140del	ENSP00000504008.1:n.635-144_635-140del
ENST00000677934.1:c.634+2356_634+2360del	ENSP00000504769.1:n.634+2356_634+2360del
ENST00000221930.5:c.635-144_635-140del	ENSP00000221930.4:n.635-144_635-140del
ENST00000597453.1:n.166-144_166-140del
ENST00000600196.1:n.95-144_95-140del
NM_000660.5:c.635-144_635-140del	NP_000651.3:n.635-144_635-140del
XM_011527242.1:c.635-144_635-140del	XP_011525544.1:n.635-144_635-140del
NM_000660.6:c.635-144_635-140del	NP_000651.3:n.635-144_635-140del
XM_011527242.2:c.635-144_635-140del	XP_011525544.1:n.635-144_635-140del
NM_000660.7:c.635-144_635-140del MANE Select	NP_000651.3:n.635-144_635-140del