Canonical Allele Identifier: CA008887

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 177890
• ClinVar RCV Id: RCV000154542
• dbSNP Id: rs727504383
• MyVariant Identifiers: chr9:g.101907034_101907039del (hg19) ; chr9:g.99144752_99144757del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99144752_99144757del , CM000671.2:g.99144752_99144757del	GRCh38
NC_000009.11:g.101907034_101907039del , CM000671.1:g.101907034_101907039del	GRCh37
NC_000009.10:g.100946855_100946860del	NCBI36
NG_007461.1:g.44623_44628del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.787_792del	ENSP00000449934.2:p.Arg263_Asp264del
ENST00000552573.7:c.799_804del	ENSP00000447182.3:p.Arg267_Asp268del
ENST00000548365.6:c.568_573del	ENSP00000448518.2:p.Arg190_Asp191del
ENST00000549021.6:c.556_561del	ENSP00000449028.2:p.Arg186_Asp187del
ENST00000698941.1:c.799_804del	ENSP00000514048.1:p.Arg267_Asp268del
ENST00000698942.1:c.*790_*795del	ENSP00000514049.1:n.*790_*795del
ENST00000374994.9:c.994_999del MANE Select	ENSP00000364133.4:p.Arg332_Asp333del
ENST00000374990.6:c.763_768del	ENSP00000364129.2:p.Arg255_Asp256del
ENST00000374994.8:c.994_999del	ENSP00000364133.4:p.Arg332_Asp333del
ENST00000549766.5:c.1006_1011del	ENSP00000446685.1:p.Arg336_Asp337del
ENST00000550253.1:c.787_792del	ENSP00000450052.1:p.Arg263_Asp264del
ENST00000552516.5:c.1006_1011del	ENSP00000447297.1:p.Arg336_Asp337del
NM_001130916.1:c.763_768del	NP_001124388.1:p.Arg255_Asp256del
NM_001130916.2:c.763_768del	NP_001124388.1:p.Arg255_Asp256del
NM_001306210.1:c.1006_1011del	NP_001293139.1:p.Arg336_Asp337del
NM_004612.2:c.994_999del	NP_004603.1:p.Arg332_Asp333del
NM_004612.3:c.994_999del	NP_004603.1:p.Arg332_Asp333del
XM_011518948.1:c.799_804del	XP_011517250.1:p.Arg267_Asp268del
XM_011518949.1:c.787_792del	XP_011517251.1:p.Arg263_Asp264del
XM_011518950.1:c.556_561del	XP_011517252.1:p.Arg186_Asp187del
XM_011518948.2:c.799_804del	XP_011517250.1:p.Arg267_Asp268del
XM_011518949.2:c.787_792del	XP_011517251.1:p.Arg263_Asp264del
XM_011518950.2:c.556_561del	XP_011517252.1:p.Arg186_Asp187del
XM_017015063.1:c.799_804del	XP_016870552.1:p.Arg267_Asp268del
XM_024447658.1:c.787_792del	XP_024303426.1:p.Arg263_Asp264del
NM_004612.4:c.994_999del MANE Select	NP_004603.1:p.Arg332_Asp333del
NM_001130916.3:c.763_768del	NP_001124388.1:p.Arg255_Asp256del
NM_001306210.2:c.1006_1011del	NP_001293139.1:p.Arg336_Asp337del