Canonical Allele Identifier: CA589362468

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1212557594
• gnomAD v2: 9-101912101-CT-C
• gnomAD v3: 9-99149819-CT-C
• gnomAD v4: 9-99149819-CT-C
• MyVariant Identifiers: chr9:g.101912102del (hg19) ; chr9:g.99149820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99149821del , CM000671.2:g.99149821del	GRCh38
NC_000009.11:g.101912103del , CM000671.1:g.101912103del	GRCh37
NC_000009.10:g.100951924del	NCBI36
NG_007461.1:g.49692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*516del	ENSP00000449934.2:n.*516del
ENST00000552573.7:c.*516del	ENSP00000447182.3:n.*516del
ENST00000698941.1:c.*516del	ENSP00000514048.1:n.*516del
ENST00000698943.1:n.1595del
ENST00000374994.9:c.*516del MANE Select	ENSP00000364133.4:n.*516del
ENST00000374990.6:c.*516del	ENSP00000364129.2:n.*516del
ENST00000374994.8:c.*516del	ENSP00000364133.4:n.*516del
ENST00000552516.5:c.*516del	ENSP00000447297.1:n.*516del
NM_001130916.1:c.*516del	NP_001124388.1:n.*516del
NM_001130916.2:c.*516del	NP_001124388.1:n.*516del
NM_001306210.1:c.*516del	NP_001293139.1:n.*516del
NM_004612.2:c.*516del	NP_004603.1:n.*516del
NM_004612.3:c.*516del	NP_004603.1:n.*516del
XM_011518948.1:c.*516del	XP_011517250.1:n.*516del
XM_011518949.1:c.*516del	XP_011517251.1:n.*516del
XM_011518950.1:c.*516del	XP_011517252.1:n.*516del
XM_011518948.2:c.*516del	XP_011517250.1:n.*516del
XM_011518949.2:c.*516del	XP_011517251.1:n.*516del
XM_011518950.2:c.*516del	XP_011517252.1:n.*516del
XM_017015063.1:c.*516del	XP_016870552.1:n.*516del
XM_024447658.1:c.*516del	XP_024303426.1:n.*516del
NM_004612.4:c.*516del MANE Select	NP_004603.1:n.*516del
NM_001130916.3:c.*516del	NP_001124388.1:n.*516del
NM_001306210.2:c.*516del	NP_001293139.1:n.*516del