Canonical Allele Identifier: CA882310928

Gene: TGFB1

Linked Data

• dbSNP Id: rs1460021257
• gnomAD v3: 19-41332452-CACTA-C
• gnomAD v4: 19-41332452-CACTA-C
• MyVariant Identifiers: chr19:g.41838358_41838361del (hg19) ; chr19:g.41332453_41332456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332455_41332458del , CM000681.2:g.41332455_41332458del	GRCh38
NC_000019.9:g.41838360_41838363del , CM000681.1:g.41838360_41838363del	GRCh37
NC_000019.8:g.46530200_46530203del	NCBI36
NG_013364.1:g.26471_26474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.861-175_861-172del MANE Select	ENSP00000221930.4:n.861-175_861-172del
ENST00000600196.2:c.713-175_713-172del	ENSP00000504008.1:n.713-175_713-172del
ENST00000677934.1:c.635-175_635-172del	ENSP00000504769.1:n.635-175_635-172del
ENST00000221930.5:c.861-175_861-172del	ENSP00000221930.4:n.861-175_861-172del
ENST00000598758.5:c.149-175_149-172del
ENST00000600196.1:n.173-175_173-172del
NM_000660.5:c.861-175_861-172del	NP_000651.3:n.861-175_861-172del
XM_011527242.1:c.864-175_864-172del	XP_011525544.1:n.864-175_864-172del
NM_000660.6:c.861-175_861-172del	NP_000651.3:n.861-175_861-172del
XM_011527242.2:c.864-175_864-172del	XP_011525544.1:n.864-175_864-172del
NM_000660.7:c.861-175_861-172del MANE Select	NP_000651.3:n.861-175_861-172del