Canonical Allele Identifier: CA323828

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99105156_99105157del , CM000671.2:g.99105156_99105157del	GRCh38
NC_000009.11:g.101867438_101867439del , CM000671.1:g.101867438_101867439del	GRCh37
NC_000009.10:g.100907259_100907260del	NCBI36
NG_007461.1:g.5027_5028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.-111+1050_-111+1051del	ENSP00000449934.2:n.-111+1050_-111+1051del
ENST00000552573.7:c.-111+1050_-111+1051del	ENSP00000447182.3:n.-111+1050_-111+1051del
ENST00000698941.1:c.-111+31_-111+32del	ENSP00000514048.1:n.-111+31_-111+32del
ENST00000374994.9:c.-50_-49del MANE Select	ENSP00000364133.4:n.-50_-49del
ENST00000374990.6:c.-50_-49del	ENSP00000364129.2:n.-50_-49del
ENST00000374994.8:c.-50_-49del	ENSP00000364133.4:n.-50_-49del
ENST00000547314.5:c.-111+1050_-111+1051del	ENSP00000449934.1:n.-111+1050_-111+1051del
ENST00000549766.5:c.-50_-49del	ENSP00000446685.1:n.-50_-49del
ENST00000552516.5:c.-50_-49del	ENSP00000447297.1:n.-50_-49del
ENST00000552573.6:c.-111+1050_-111+1051del	ENSP00000447182.2:n.-111+1050_-111+1051del
NM_001130916.1:c.-50_-49del	NP_001124388.1:n.-50_-49del
NM_001130916.2:c.-50_-49del	NP_001124388.1:n.-50_-49del
NM_001306210.1:c.-50_-49del	NP_001293139.1:n.-50_-49del
NM_004612.2:c.-50_-49del	NP_004603.1:n.-50_-49del
NM_004612.3:c.-50_-49del	NP_004603.1:n.-50_-49del
XM_011518949.1:c.-111+1050_-111+1051del	XP_011517251.1:n.-111+1050_-111+1051del
XM_011518949.2:c.-111+1050_-111+1051del	XP_011517251.1:n.-111+1050_-111+1051del
XM_017015063.1:c.-111+31_-111+32del	XP_016870552.1:n.-111+31_-111+32del
NM_004612.4:c.-50_-49del MANE Select	NP_004603.1:n.-50_-49del
NM_001130916.3:c.-50_-49del	NP_001124388.1:n.-50_-49del
NM_001306210.2:c.-50_-49del	NP_001293139.1:n.-50_-49del