Canonical Allele Identifier: CA645563374
Gene: TGFBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137884_99137895del , CM000671.2:g.99137884_99137895del GRCh38
NC_000009.11:g.101900166_101900177del , CM000671.1:g.101900166_101900177del GRCh37
NC_000009.10:g.100939987_100939998del NCBI36
NG_007461.1:g.37755_37766del

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.393_404del ENSP00000449934.2:p.Ile132_Thr135del
ENST00000552573.7:c.405_416del ENSP00000447182.3:p.Ile136_Thr139del
ENST00000548365.6:c.380-4652_380-4641del ENSP00000448518.2:n.380-4652_380-4641del
ENST00000549021.6:c.162_173del ENSP00000449028.2:p.Ile55_Thr58del
ENST00000698941.1:c.405_416del ENSP00000514048.1:p.Ile136_Thr139del
ENST00000698942.1:c.*396_*407del ENSP00000514049.1:n.*396_*407del
ENST00000374994.9:c.600_611del MANE Select ENSP00000364133.4:p.Ile201_Thr204del
ENST00000374990.6:c.369_380del ENSP00000364129.2:p.Ile124_Thr127del
ENST00000374994.8:c.600_611del ENSP00000364133.4:p.Ile201_Thr204del
ENST00000549021.5:c.162_173del ENSP00000449028.1:p.Ile55_Thr58del
ENST00000549766.5:c.612_623del ENSP00000446685.1:p.Ile205_Thr208del
ENST00000550253.1:c.393_404del ENSP00000450052.1:p.Ile132_Thr135del
ENST00000552516.5:c.612_623del ENSP00000447297.1:p.Ile205_Thr208del
NM_001130916.1:c.369_380del NP_001124388.1:p.Ile124_Thr127del
NM_001130916.2:c.369_380del NP_001124388.1:p.Ile124_Thr127del
NM_001306210.1:c.612_623del NP_001293139.1:p.Ile205_Thr208del
NM_004612.2:c.600_611del NP_004603.1:p.Ile201_Thr204del
NM_004612.3:c.600_611del NP_004603.1:p.Ile201_Thr204del
XM_011518948.1:c.405_416del XP_011517250.1:p.Ile136_Thr139del
XM_011518949.1:c.393_404del XP_011517251.1:p.Ile132_Thr135del
XM_011518950.1:c.162_173del XP_011517252.1:p.Ile55_Thr58del
XM_011518948.2:c.405_416del XP_011517250.1:p.Ile136_Thr139del
XM_011518949.2:c.393_404del XP_011517251.1:p.Ile132_Thr135del
XM_011518950.2:c.162_173del XP_011517252.1:p.Ile55_Thr58del
XM_017015063.1:c.405_416del XP_016870552.1:p.Ile136_Thr139del
XM_024447658.1:c.393_404del XP_024303426.1:p.Ile132_Thr135del
NM_004612.4:c.600_611del MANE Select NP_004603.1:p.Ile201_Thr204del
NM_001130916.3:c.369_380del NP_001124388.1:p.Ile124_Thr127del
NM_001306210.2:c.612_623del NP_001293139.1:p.Ile205_Thr208del