Canonical Allele Identifier: CA882316853

Gene: TGFB1

Linked Data

• dbSNP Id: rs55678429
• gnomAD v3: 19-41342390-CTTTTTT-C
• gnomAD v4: 19-41342390-CTTTTTT-C
• MyVariant Identifiers: chr19:g.41848296_41848301del (hg19) ; chr19:g.41342391_41342396del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342408_41342413del , CM000681.2:g.41342408_41342413del	GRCh38
NC_000019.9:g.41848313_41848318del , CM000681.1:g.41848313_41848318del	GRCh37
NC_000019.8:g.46540153_46540158del	NCBI36
NG_013364.1:g.16531_16536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.635-149_635-144del MANE Select	ENSP00000221930.4:n.635-149_635-144del
ENST00000600196.2:c.635-149_635-144del	ENSP00000504008.1:n.635-149_635-144del
ENST00000677934.1:c.634+2351_634+2356del	ENSP00000504769.1:n.634+2351_634+2356del
ENST00000221930.5:c.635-149_635-144del	ENSP00000221930.4:n.635-149_635-144del
ENST00000597453.1:n.166-149_166-144del
ENST00000600196.1:n.95-149_95-144del
NM_000660.5:c.635-149_635-144del	NP_000651.3:n.635-149_635-144del
XM_011527242.1:c.635-149_635-144del	XP_011525544.1:n.635-149_635-144del
NM_000660.6:c.635-149_635-144del	NP_000651.3:n.635-149_635-144del
XM_011527242.2:c.635-149_635-144del	XP_011525544.1:n.635-149_635-144del
NM_000660.7:c.635-149_635-144del MANE Select	NP_000651.3:n.635-149_635-144del