Canonical Allele Identifier: CA196864779

Gene: TGFBR1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99105272_99105283del , CM000671.2:g.99105272_99105283del	GRCh38
NC_000009.11:g.101867554_101867565del , CM000671.1:g.101867554_101867565del	GRCh37
NC_000009.10:g.100907375_100907386del	NCBI36
NG_007461.1:g.5143_5154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.-111+1166_-111+1177del	ENSP00000449934.2:n.-111+1166_-111+1177del
ENST00000552573.7:c.-111+1166_-111+1177del	ENSP00000447182.3:n.-111+1166_-111+1177del
ENST00000698941.1:c.-111+147_-111+158del	ENSP00000514048.1:n.-111+147_-111+158del
ENST00000374994.9:c.67_78del MANE Select	ENSP00000364133.4:p.Ala23_Ala26del
ENST00000374990.6:c.67_78del	ENSP00000364129.2:p.Ala23_Ala26del
ENST00000374994.8:c.67_78del	ENSP00000364133.4:p.Ala23_Ala26del
ENST00000547314.5:c.-111+1166_-111+1177del	ENSP00000449934.1:n.-111+1166_-111+1177del
ENST00000549766.5:c.67_78del	ENSP00000446685.1:p.Ala23_Ala26del
ENST00000552516.5:c.67_78del	ENSP00000447297.1:p.Ala23_Ala26del
ENST00000552573.6:c.-111+1166_-111+1177del	ENSP00000447182.2:n.-111+1166_-111+1177del
NM_001130916.1:c.67_78del	NP_001124388.1:p.Ala23_Ala26del
NM_001130916.2:c.67_78del	NP_001124388.1:p.Ala23_Ala26del
NM_001306210.1:c.67_78del	NP_001293139.1:p.Ala23_Ala26del
NM_004612.2:c.67_78del	NP_004603.1:p.Ala23_Ala26del
NM_004612.3:c.67_78del	NP_004603.1:p.Ala23_Ala26del
XM_011518949.1:c.-111+1166_-111+1177del	XP_011517251.1:n.-111+1166_-111+1177del
XM_011518949.2:c.-111+1166_-111+1177del	XP_011517251.1:n.-111+1166_-111+1177del
XM_017015063.1:c.-111+147_-111+158del	XP_016870552.1:n.-111+147_-111+158del
NM_004612.4:c.67_78del MANE Select	NP_004603.1:p.Ala23_Ala26del
NM_001130916.3:c.67_78del	NP_001124388.1:p.Ala23_Ala26del
NM_001306210.2:c.67_78del	NP_001293139.1:p.Ala23_Ala26del