Canonical Allele Identifier: CA882310954

Gene: TGFB1

Linked Data

• dbSNP Id: rs1480343791
• gnomAD v3: 19-41332497-ATAAT-A
• gnomAD v4: 19-41332497-ATAAT-A
• MyVariant Identifiers: chr19:g.41838403_41838406del (hg19) ; chr19:g.41332498_41332501del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332503_41332506del , CM000681.2:g.41332503_41332506del	GRCh38
NC_000019.9:g.41838408_41838411del , CM000681.1:g.41838408_41838411del	GRCh37
NC_000019.8:g.46530248_46530251del	NCBI36
NG_013364.1:g.26426_26429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.861-220_861-217del MANE Select	ENSP00000221930.4:n.861-220_861-217del
ENST00000600196.2:c.713-220_713-217del	ENSP00000504008.1:n.713-220_713-217del
ENST00000677934.1:c.635-220_635-217del	ENSP00000504769.1:n.635-220_635-217del
ENST00000221930.5:c.861-220_861-217del	ENSP00000221930.4:n.861-220_861-217del
ENST00000598758.5:c.149-220_149-217del
ENST00000600196.1:n.173-220_173-217del
NM_000660.5:c.861-220_861-217del	NP_000651.3:n.861-220_861-217del
XM_011527242.1:c.864-220_864-217del	XP_011525544.1:n.864-220_864-217del
NM_000660.6:c.861-220_861-217del	NP_000651.3:n.861-220_861-217del
XM_011527242.2:c.864-220_864-217del	XP_011525544.1:n.864-220_864-217del
NM_000660.7:c.861-220_861-217del MANE Select	NP_000651.3:n.861-220_861-217del