Canonical Allele Identifier: CA16612907

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 408570
• ClinVar RCV Id: RCV000465262
• dbSNP Id: rs11466445
• gnomAD v2: 9-101867537-T-TGGCGGCGGC
• gnomAD v3: 9-99105255-T-TGGCGGCGGC
• gnomAD v4: 9-99105255-T-TGGCGGCGGC
• MyVariant Identifiers: chr9:g.101867557_101867565dupGCGGCGGCG (hg19) ; chr9:g.101867549_101867550insGGCGGCGGC (hg19) ; chr9:g.101867537_101867538insGGCGGCGGC (hg19) ; chr9:g.99105275_99105283dupGCGGCGGCG (hg38) ; chr9:g.99105267_99105268insGGCGGCGGC (hg38) ; chr9:g.99105255_99105256insGGCGGCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99105275_99105283dup , CM000671.2:g.99105275_99105283dup	GRCh38
NC_000009.11:g.101867557_101867565dup , CM000671.1:g.101867557_101867565dup	GRCh37
NC_000009.10:g.100907378_100907386dup	NCBI36
NG_007461.1:g.5146_5154dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.-111+1169_-111+1177dup	ENSP00000449934.2:n.-111+1169_-111+1177du...
ENST00000552573.7:c.-111+1169_-111+1177dup	ENSP00000447182.3:n.-111+1169_-111+1177du...
ENST00000698941.1:c.-111+150_-111+158dup	ENSP00000514048.1:n.-111+150_-111+158dup
ENST00000374994.9:c.70_78dup MANE Select	ENSP00000364133.4:p.Ala26_Leu27insAlaAlaA...
ENST00000374990.6:c.70_78dup	ENSP00000364129.2:p.Ala26_Leu27insAlaAlaA...
ENST00000374994.8:c.70_78dup	ENSP00000364133.4:p.Ala26_Leu27insAlaAlaA...
ENST00000547314.5:c.-111+1169_-111+1177dup	ENSP00000449934.1:n.-111+1169_-111+1177du...
ENST00000549766.5:c.70_78dup	ENSP00000446685.1:p.Ala26_Leu27insAlaAlaA...
ENST00000552516.5:c.70_78dup	ENSP00000447297.1:p.Ala26_Leu27insAlaAlaA...
ENST00000552573.6:c.-111+1169_-111+1177dup	ENSP00000447182.2:n.-111+1169_-111+1177du...
NM_001130916.1:c.70_78dup	NP_001124388.1:p.Ala26_Leu27insAlaAlaAla
NM_001130916.2:c.70_78dup	NP_001124388.1:p.Ala26_Leu27insAlaAlaAla
NM_001306210.1:c.70_78dup	NP_001293139.1:p.Ala26_Leu27insAlaAlaAla
NM_004612.2:c.70_78dup	NP_004603.1:p.Ala26_Leu27insAlaAlaAla
NM_004612.3:c.70_78dup	NP_004603.1:p.Ala26_Leu27insAlaAlaAla
XM_011518949.1:c.-111+1169_-111+1177dup	XP_011517251.1:n.-111+1169_-111+1177dup
XM_011518949.2:c.-111+1169_-111+1177dup	XP_011517251.1:n.-111+1169_-111+1177dup
XM_017015063.1:c.-111+150_-111+158dup	XP_016870552.1:n.-111+150_-111+158dup
NM_004612.4:c.70_78dup MANE Select	NP_004603.1:p.Ala26_Leu27insAlaAlaAla
NM_001130916.3:c.70_78dup	NP_001124388.1:p.Ala26_Leu27insAlaAlaAla
NM_001306210.2:c.70_78dup	NP_001293139.1:p.Ala26_Leu27insAlaAlaAla