Canonical Allele Identifier: CA321828

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 213896
• ClinVar RCV Id: RCV000197382 ; RCV000825630 ; RCV001380058
• dbSNP Id: rs863223829
• MyVariant Identifiers: chr9:g.101900249_101900251del (hg19) ; chr9:g.99137967_99137969del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137967_99137969del , CM000671.2:g.99137967_99137969del	GRCh38
NC_000009.11:g.101900249_101900251del , CM000671.1:g.101900249_101900251del	GRCh37
NC_000009.10:g.100940070_100940072del	NCBI36
NG_007461.1:g.37838_37840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.476_478del	ENSP00000449934.2:p.Glu159del
ENST00000552573.7:c.488_490del	ENSP00000447182.3:p.Glu163del
ENST00000548365.6:c.380-4569_380-4567del	ENSP00000448518.2:n.380-4569_380-4567del
ENST00000549021.6:c.245_247del	ENSP00000449028.2:p.Glu82del
ENST00000698941.1:c.488_490del	ENSP00000514048.1:p.Glu163del
ENST00000698942.1:c.*479_*481del	ENSP00000514049.1:n.*479_*481del
ENST00000374994.9:c.683_685del MANE Select	ENSP00000364133.4:p.Glu228del
ENST00000374990.6:c.452_454del	ENSP00000364129.2:p.Glu151del
ENST00000374994.8:c.683_685del	ENSP00000364133.4:p.Glu228del
ENST00000549021.5:c.245_247del	ENSP00000449028.1:p.Glu82del
ENST00000549766.5:c.695_697del	ENSP00000446685.1:p.Glu232del
ENST00000550253.1:c.476_478del	ENSP00000450052.1:p.Glu159del
ENST00000552516.5:c.695_697del	ENSP00000447297.1:p.Glu232del
NM_001130916.1:c.452_454del	NP_001124388.1:p.Glu151del
NM_001130916.2:c.452_454del	NP_001124388.1:p.Glu151del
NM_001306210.1:c.695_697del	NP_001293139.1:p.Glu232del
NM_004612.2:c.683_685del	NP_004603.1:p.Glu228del
NM_004612.3:c.683_685del	NP_004603.1:p.Glu228del
XM_011518948.1:c.488_490del	XP_011517250.1:p.Glu163del
XM_011518949.1:c.476_478del	XP_011517251.1:p.Glu159del
XM_011518950.1:c.245_247del	XP_011517252.1:p.Glu82del
XM_011518948.2:c.488_490del	XP_011517250.1:p.Glu163del
XM_011518949.2:c.476_478del	XP_011517251.1:p.Glu159del
XM_011518950.2:c.245_247del	XP_011517252.1:p.Glu82del
XM_017015063.1:c.488_490del	XP_016870552.1:p.Glu163del
XM_024447658.1:c.476_478del	XP_024303426.1:p.Glu159del
NM_004612.4:c.683_685del MANE Select	NP_004603.1:p.Glu228del
NM_001130916.3:c.452_454del	NP_001124388.1:p.Glu151del
NM_001306210.2:c.695_697del	NP_001293139.1:p.Glu232del