Canonical Allele Identifier: CA1867274387

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1828034861

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99153756_99153758del , CM000671.2:g.99153756_99153758del	GRCh38
NC_000009.11:g.101916038_101916040del , CM000671.1:g.101916038_101916040del	GRCh37
NC_000009.10:g.100955859_100955861del	NCBI36
NG_007461.1:g.53627_53629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*4451_*4453del	ENSP00000449934.2:n.*4451_*4453del
ENST00000552573.7:c.*4451_*4453del	ENSP00000447182.3:n.*4451_*4453del
ENST00000374994.9:c.*4451_*4453del MANE Select	ENSP00000364133.4:n.*4451_*4453del
ENST00000374994.8:c.*4451_*4453del	ENSP00000364133.4:n.*4451_*4453del
NM_001130916.1:c.*4451_*4453del	NP_001124388.1:n.*4451_*4453del
NM_001130916.2:c.*4451_*4453del	NP_001124388.1:n.*4451_*4453del
NM_001306210.1:c.*4451_*4453del	NP_001293139.1:n.*4451_*4453del
NM_004612.2:c.*4451_*4453del	NP_004603.1:n.*4451_*4453del
NM_004612.3:c.*4451_*4453del	NP_004603.1:n.*4451_*4453del
NM_004612.4:c.*4451_*4453del MANE Select	NP_004603.1:n.*4451_*4453del
NM_001130916.3:c.*4451_*4453del	NP_001124388.1:n.*4451_*4453del
NM_001306210.2:c.*4451_*4453del	NP_001293139.1:n.*4451_*4453del