Canonical Allele Identifier: CA2695210823

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137891_99137902dup , CM000671.2:g.99137891_99137902dup	GRCh38
NC_000009.11:g.101900173_101900184dup , CM000671.1:g.101900173_101900184dup	GRCh37
NC_000009.10:g.100939994_100940005dup	NCBI36
NG_007461.1:g.37762_37773dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.400_411dup	ENSP00000449934.2:p.Val137_Leu138insArgThrIleVal
ENST00000552573.7:c.412_423dup	ENSP00000447182.3:p.Val141_Leu142insArgThrIleVal
ENST00000548365.6:c.380-4645_380-4634dup	ENSP00000448518.2:n.380-4645_380-4634dup
ENST00000549021.6:c.169_180dup	ENSP00000449028.2:p.Val60_Leu61insArgThrIleVal
ENST00000698941.1:c.412_423dup	ENSP00000514048.1:p.Val141_Leu142insArgThrIleVal
ENST00000698942.1:c.*403_*414dup	ENSP00000514049.1:n.*403_*414dup
ENST00000374994.9:c.607_618dup MANE Select	ENSP00000364133.4:p.Val206_Leu207insArgThrIleVal
ENST00000374990.6:c.376_387dup	ENSP00000364129.2:p.Val129_Leu130insArgThrIleVal
ENST00000374994.8:c.607_618dup	ENSP00000364133.4:p.Val206_Leu207insArgThrIleVal
ENST00000549021.5:c.169_180dup	ENSP00000449028.1:p.Val60_Leu61insArgThrIleVal
ENST00000549766.5:c.619_630dup	ENSP00000446685.1:p.Val210_Leu211insArgThrIleVal
ENST00000550253.1:c.400_411dup	ENSP00000450052.1:p.Val137_Leu138insArgThrIleVal
ENST00000552516.5:c.619_630dup	ENSP00000447297.1:p.Val210_Leu211insArgThrIleVal
NM_001130916.1:c.376_387dup	NP_001124388.1:p.Val129_Leu130insArgThrIleVal
NM_001130916.2:c.376_387dup	NP_001124388.1:p.Val129_Leu130insArgThrIleVal
NM_001306210.1:c.619_630dup	NP_001293139.1:p.Val210_Leu211insArgThrIleVal
NM_004612.2:c.607_618dup	NP_004603.1:p.Val206_Leu207insArgThrIleVal
NM_004612.3:c.607_618dup	NP_004603.1:p.Val206_Leu207insArgThrIleVal
XM_011518948.1:c.412_423dup	XP_011517250.1:p.Val141_Leu142insArgThrIleVal
XM_011518949.1:c.400_411dup	XP_011517251.1:p.Val137_Leu138insArgThrIleVal
XM_011518950.1:c.169_180dup	XP_011517252.1:p.Val60_Leu61insArgThrIleVal
XM_011518948.2:c.412_423dup	XP_011517250.1:p.Val141_Leu142insArgThrIleVal
XM_011518949.2:c.400_411dup	XP_011517251.1:p.Val137_Leu138insArgThrIleVal
XM_011518950.2:c.169_180dup	XP_011517252.1:p.Val60_Leu61insArgThrIleVal
XM_017015063.1:c.412_423dup	XP_016870552.1:p.Val141_Leu142insArgThrIleVal
XM_024447658.1:c.400_411dup	XP_024303426.1:p.Val137_Leu138insArgThrIleVal
NM_004612.4:c.607_618dup MANE Select	NP_004603.1:p.Val206_Leu207insArgThrIleVal
NM_001130916.3:c.376_387dup	NP_001124388.1:p.Val129_Leu130insArgThrIleVal
NM_001306210.2:c.619_630dup	NP_001293139.1:p.Val210_Leu211insArgThrIleVal