Canonical Allele Identifier: CA2576793244

Gene: TGFB1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341955dup , CM000681.2:g.41341955dup	GRCh38
NC_000019.9:g.41847860dup , CM000681.1:g.41847860dup	GRCh37
NC_000019.8:g.46539700dup	NCBI36
NG_013364.1:g.16975dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.791dup MANE Select	ENSP00000221930.4:p.Leu265AlafsTer?
ENST00000600196.2:c.712+218dup	ENSP00000504008.1:n.712+218dup
ENST00000677934.1:c.634+2795dup	ENSP00000504769.1:n.634+2795dup
ENST00000221930.5:c.791dup	ENSP00000221930.4:p.Leu265AlafsTer?
ENST00000598758.5:c.79dup
ENST00000600196.1:n.172+218dup
NM_000660.5:c.791dup	NP_000651.3:p.Leu265AlafsTer?
XM_011527242.1:c.794dup	XP_011525544.1:p.Leu266AlafsTer?
NM_000660.6:c.791dup	NP_000651.3:p.Leu265AlafsTer?
XM_011527242.2:c.794dup	XP_011525544.1:p.Leu266AlafsTer?
NM_000660.7:c.791dup MANE Select	NP_000651.3:p.Leu265AlafsTer?