Canonical Allele Identifier: CA2582166927

Gene: TGFB1

Linked Data

• dbSNP Id: rs2123081065
• gnomAD v3: 19-41332519-TAAGAC-T
• gnomAD v4: 19-41332519-TAAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332523_41332527del , CM000681.2:g.41332523_41332527del	GRCh38
NC_000019.9:g.41838428_41838432del , CM000681.1:g.41838428_41838432del	GRCh37
NC_000019.8:g.46530268_46530272del	NCBI36
NG_013364.1:g.26403_26407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.861-243_861-239del MANE Select	ENSP00000221930.4:n.861-243_861-239del
ENST00000600196.2:c.713-243_713-239del	ENSP00000504008.1:n.713-243_713-239del
ENST00000677934.1:c.635-243_635-239del	ENSP00000504769.1:n.635-243_635-239del
ENST00000221930.5:c.861-243_861-239del	ENSP00000221930.4:n.861-243_861-239del
ENST00000598758.5:c.149-243_149-239del
ENST00000600196.1:n.173-243_173-239del
NM_000660.5:c.861-243_861-239del	NP_000651.3:n.861-243_861-239del
XM_011527242.1:c.864-243_864-239del	XP_011525544.1:n.864-243_864-239del
NM_000660.6:c.861-243_861-239del	NP_000651.3:n.861-243_861-239del
XM_011527242.2:c.864-243_864-239del	XP_011525544.1:n.864-243_864-239del
NM_000660.7:c.861-243_861-239del MANE Select	NP_000651.3:n.861-243_861-239del