Canonical Allele Identifier: CA882316882

Gene: TGFB1

Linked Data

• dbSNP Id: rs1334369570
• gnomAD v3: 19-41342413-TGA-T
• gnomAD v4: 19-41342413-TGA-T
• MyVariant Identifiers: chr19:g.41848319_41848320del (hg19) ; chr19:g.41342414_41342415del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342416_41342417del , CM000681.2:g.41342416_41342417del	GRCh38
NC_000019.9:g.41848321_41848322del , CM000681.1:g.41848321_41848322del	GRCh37
NC_000019.8:g.46540161_46540162del	NCBI36
NG_013364.1:g.16512_16513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.635-168_635-167del MANE Select	ENSP00000221930.4:n.635-168_635-167del
ENST00000600196.2:c.635-168_635-167del	ENSP00000504008.1:n.635-168_635-167del
ENST00000677934.1:c.634+2332_634+2333del	ENSP00000504769.1:n.634+2332_634+2333del
ENST00000221930.5:c.635-168_635-167del	ENSP00000221930.4:n.635-168_635-167del
ENST00000597453.1:n.166-168_166-167del
ENST00000600196.1:n.95-168_95-167del
NM_000660.5:c.635-168_635-167del	NP_000651.3:n.635-168_635-167del
XM_011527242.1:c.635-168_635-167del	XP_011525544.1:n.635-168_635-167del
NM_000660.6:c.635-168_635-167del	NP_000651.3:n.635-168_635-167del
XM_011527242.2:c.635-168_635-167del	XP_011525544.1:n.635-168_635-167del
NM_000660.7:c.635-168_635-167del MANE Select	NP_000651.3:n.635-168_635-167del