Canonical Allele Identifier: CA995968076

Gene: TGFB1

Linked Data

• dbSNP Id: rs2037943940
• gnomAD v3: 19-41332418-CTG-C
• gnomAD v4: 19-41332418-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332422_41332423del , CM000681.2:g.41332422_41332423del	GRCh38
NC_000019.9:g.41838327_41838328del , CM000681.1:g.41838327_41838328del	GRCh37
NC_000019.8:g.46530167_46530168del	NCBI36
NG_013364.1:g.26507_26508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.861-139_861-138del MANE Select	ENSP00000221930.4:n.861-139_861-138del
ENST00000600196.2:c.713-139_713-138del	ENSP00000504008.1:n.713-139_713-138del
ENST00000677934.1:c.635-139_635-138del	ENSP00000504769.1:n.635-139_635-138del
ENST00000221930.5:c.861-139_861-138del	ENSP00000221930.4:n.861-139_861-138del
ENST00000598758.5:c.149-139_149-138del
ENST00000600196.1:n.173-139_173-138del
NM_000660.5:c.861-139_861-138del	NP_000651.3:n.861-139_861-138del
XM_011527242.1:c.864-139_864-138del	XP_011525544.1:n.864-139_864-138del
NM_000660.6:c.861-139_861-138del	NP_000651.3:n.861-139_861-138del
XM_011527242.2:c.864-139_864-138del	XP_011525544.1:n.864-139_864-138del
NM_000660.7:c.861-139_861-138del MANE Select	NP_000651.3:n.861-139_861-138del