Canonical Allele Identifier: CA2697557905

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 2748941
• ClinVar RCV Id: RCV003529731

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99105208_99105232dup , CM000671.2:g.99105208_99105232dup	GRCh38
NC_000009.11:g.101867490_101867514dup , CM000671.1:g.101867490_101867514dup	GRCh37
NC_000009.10:g.100907311_100907335dup	NCBI36
NG_007461.1:g.5079_5103dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.-111+1102_-111+1126dup	ENSP00000449934.2:n.-111+1102_-111+1126dup
ENST00000552573.7:c.-111+1102_-111+1126dup	ENSP00000447182.3:n.-111+1102_-111+1126dup
ENST00000698941.1:c.-111+83_-111+107dup	ENSP00000514048.1:n.-111+83_-111+107dup
ENST00000374994.9:c.3_27dup MANE Select	ENSP00000364133.4:p.Pro10GlyfsTer?
ENST00000374990.6:c.3_27dup	ENSP00000364129.2:p.Pro10GlyfsTer?
ENST00000374994.8:c.3_27dup	ENSP00000364133.4:p.Pro10GlyfsTer?
ENST00000547314.5:c.-111+1102_-111+1126dup	ENSP00000449934.1:n.-111+1102_-111+1126dup
ENST00000549766.5:c.3_27dup	ENSP00000446685.1:p.Pro10GlyfsTer?
ENST00000552516.5:c.3_27dup	ENSP00000447297.1:p.Pro10GlyfsTer?
ENST00000552573.6:c.-111+1102_-111+1126dup	ENSP00000447182.2:n.-111+1102_-111+1126dup
NM_001130916.1:c.3_27dup	NP_001124388.1:p.Pro10GlyfsTer?
NM_001130916.2:c.3_27dup	NP_001124388.1:p.Pro10GlyfsTer?
NM_001306210.1:c.3_27dup	NP_001293139.1:p.Pro10GlyfsTer?
NM_004612.2:c.3_27dup	NP_004603.1:p.Pro10GlyfsTer?
NM_004612.3:c.3_27dup	NP_004603.1:p.Pro10GlyfsTer?
XM_011518949.1:c.-111+1102_-111+1126dup	XP_011517251.1:n.-111+1102_-111+1126dup
XM_011518949.2:c.-111+1102_-111+1126dup	XP_011517251.1:n.-111+1102_-111+1126dup
XM_017015063.1:c.-111+83_-111+107dup	XP_016870552.1:n.-111+83_-111+107dup
NM_004612.4:c.3_27dup MANE Select	NP_004603.1:p.Pro10GlyfsTer?
NM_001130916.3:c.3_27dup	NP_001124388.1:p.Pro10GlyfsTer?
NM_001306210.2:c.3_27dup	NP_001293139.1:p.Pro10GlyfsTer?