Canonical Allele Identifier: CA2585296392

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41342221-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342222del , CM000681.2:g.41342222del	GRCh38
NC_000019.9:g.41848127del , CM000681.1:g.41848127del	GRCh37
NC_000019.8:g.46539967del	NCBI36
NG_013364.1:g.16705del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.660del MANE Select	ENSP00000221930.4:p.Ser220ArgfsTer?
ENST00000600196.2:c.660del	ENSP00000504008.1:p.Ser220ArgfsTer?
ENST00000677934.1:c.634+2525del	ENSP00000504769.1:n.634+2525del
ENST00000221930.5:c.660del	ENSP00000221930.4:p.Ser220ArgfsTer?
ENST00000597453.1:n.191del
ENST00000600196.1:n.120del
NM_000660.5:c.660del	NP_000651.3:p.Ser220ArgfsTer?
XM_011527242.1:c.660del	XP_011525544.1:p.Ser220ArgfsTer?
NM_000660.6:c.660del	NP_000651.3:p.Ser220ArgfsTer?
XM_011527242.2:c.660del	XP_011525544.1:p.Ser220ArgfsTer?
NM_000660.7:c.660del MANE Select	NP_000651.3:p.Ser220ArgfsTer?