Canonical Allele Identifier: CA658797256

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 503802
• ClinVar RCV Id: RCV000599086 ; RCV001058970
• dbSNP Id: rs1554701447
• MyVariant Identifiers: chr9:g.101904885_101904888del (hg19) ; chr9:g.99142603_99142606del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142603_99142606del , CM000671.2:g.99142603_99142606del	GRCh38
NC_000009.11:g.101904885_101904888del , CM000671.1:g.101904885_101904888del	GRCh37
NC_000009.10:g.100944706_100944709del	NCBI36
NG_007461.1:g.42474_42477del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.666_669del	ENSP00000449934.2:p.Tyr222Ter
ENST00000552573.7:c.678_681del	ENSP00000447182.3:p.Tyr226Ter
ENST00000548365.6:c.447_450del	ENSP00000448518.2:p.Tyr149Ter
ENST00000549021.6:c.435_438del	ENSP00000449028.2:p.Tyr145Ter
ENST00000698941.1:c.678_681del	ENSP00000514048.1:p.Tyr226Ter
ENST00000698942.1:c.*669_*672del	ENSP00000514049.1:n.*669_*672del
ENST00000374994.9:c.873_876del MANE Select	ENSP00000364133.4:p.Tyr291Ter
ENST00000374990.6:c.642_645del	ENSP00000364129.2:p.Tyr214Ter
ENST00000374994.8:c.873_876del	ENSP00000364133.4:p.Tyr291Ter
ENST00000549766.5:c.885_888del	ENSP00000446685.1:p.Tyr295Ter
ENST00000550253.1:c.666_669del	ENSP00000450052.1:p.Tyr222Ter
ENST00000552516.5:c.885_888del	ENSP00000447297.1:p.Tyr295Ter
NM_001130916.1:c.642_645del	NP_001124388.1:p.Tyr214Ter
NM_001130916.2:c.642_645del	NP_001124388.1:p.Tyr214Ter
NM_001306210.1:c.885_888del	NP_001293139.1:p.Tyr295Ter
NM_004612.2:c.873_876del	NP_004603.1:p.Tyr291Ter
NM_004612.3:c.873_876del	NP_004603.1:p.Tyr291Ter
XM_011518948.1:c.678_681del	XP_011517250.1:p.Tyr226Ter
XM_011518949.1:c.666_669del	XP_011517251.1:p.Tyr222Ter
XM_011518950.1:c.435_438del	XP_011517252.1:p.Tyr145Ter
XM_011518948.2:c.678_681del	XP_011517250.1:p.Tyr226Ter
XM_011518949.2:c.666_669del	XP_011517251.1:p.Tyr222Ter
XM_011518950.2:c.435_438del	XP_011517252.1:p.Tyr145Ter
XM_017015063.1:c.678_681del	XP_016870552.1:p.Tyr226Ter
XM_024447658.1:c.666_669del	XP_024303426.1:p.Tyr222Ter
NM_004612.4:c.873_876del MANE Select	NP_004603.1:p.Tyr291Ter
NM_001130916.3:c.642_645del	NP_001124388.1:p.Tyr214Ter
NM_001306210.2:c.885_888del	NP_001293139.1:p.Tyr295Ter