Canonical Allele Identifier: CA2336426093

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 1369702
• ClinVar RCV Id: RCV001894957
• dbSNP Id: rs2038224315

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352773_41352774dup , CM000681.2:g.41352773_41352774dup	GRCh38
NC_000019.9:g.41858678_41858679dup , CM000681.1:g.41858678_41858679dup	GRCh37
NC_000019.8:g.46550518_46550519dup	NCBI36
NG_013091.1:g.16403_16404dup
NG_013364.1:g.6156_6157dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.274_275dup (TGFB1) MANE Select	ENSP00000221930.4:p.Ser92ArgfsTer22
ENST00000600196.2:c.274_275dup (TGFB1)	ENSP00000504008.1:p.Ser92ArgfsTer22
ENST00000677934.1:c.274_275dup (TGFB1)	ENSP00000504769.1:p.Ser92ArgfsTer22
ENST00000221930.5:c.274_275dup (TGFB1)	ENSP00000221930.4:p.Ser92ArgfsTer22
ENST00000539627.5:c.-30+1571_-30+1572dup (TMEM91)	ENSP00000441900.1:n.-30+1571_-30+1572dup
ENST00000604424.1:n.350+1571_350+1572dup
NM_000660.5:c.274_275dup (TGFB1)	NP_000651.3:p.Ser92ArgfsTer22
XM_011527242.1:c.274_275dup (TGFB1)	XP_011525544.1:p.Ser92ArgfsTer22
NM_000660.6:c.274_275dup (TGFB1)	NP_000651.3:p.Ser92ArgfsTer22
XM_011527242.2:c.274_275dup (TGFB1)	XP_011525544.1:p.Ser92ArgfsTer22
NM_000660.7:c.274_275dup (TGFB1) MANE Select	NP_000651.3:p.Ser92ArgfsTer22