Canonical Allele Identifier: CA869145929

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1290640091
• MyVariant Identifiers: chr9:g.101915095_101915097del (hg19) ; chr9:g.99152813_99152815del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99152815_99152817del , CM000671.2:g.99152815_99152817del	GRCh38
NC_000009.11:g.101915097_101915099del , CM000671.1:g.101915097_101915099del	GRCh37
NC_000009.10:g.100954918_100954920del	NCBI36
NG_007461.1:g.52686_52688del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*3510_*3512del	ENSP00000449934.2:n.*3510_*3512del
ENST00000552573.7:c.*3510_*3512del	ENSP00000447182.3:n.*3510_*3512del
ENST00000374994.9:c.*3510_*3512del MANE Select	ENSP00000364133.4:n.*3510_*3512del
ENST00000374990.6:c.*3510_*3512del	ENSP00000364129.2:n.*3510_*3512del
ENST00000374994.8:c.*3510_*3512del	ENSP00000364133.4:n.*3510_*3512del
ENST00000552516.5:c.*3510_*3512del	ENSP00000447297.1:n.*3510_*3512del
NM_001130916.1:c.*3510_*3512del	NP_001124388.1:n.*3510_*3512del
NM_001130916.2:c.*3510_*3512del	NP_001124388.1:n.*3510_*3512del
NM_001306210.1:c.*3510_*3512del	NP_001293139.1:n.*3510_*3512del
NM_004612.2:c.*3510_*3512del	NP_004603.1:n.*3510_*3512del
NM_004612.3:c.*3510_*3512del	NP_004603.1:n.*3510_*3512del
XM_011518948.1:c.*3510_*3512del	XP_011517250.1:n.*3510_*3512del
XM_011518949.1:c.*3510_*3512del	XP_011517251.1:n.*3510_*3512del
XM_011518950.1:c.*3510_*3512del	XP_011517252.1:n.*3510_*3512del
NM_004612.4:c.*3510_*3512del MANE Select	NP_004603.1:n.*3510_*3512del
NM_001130916.3:c.*3510_*3512del	NP_001124388.1:n.*3510_*3512del
NM_001306210.2:c.*3510_*3512del	NP_001293139.1:n.*3510_*3512del