Canonical Allele Identifier: CA10627835

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 364168
• ClinVar RCV Id: RCV000273134 ; RCV000325836 ; RCV000384031
• dbSNP Id: rs78078491
• gnomAD v2: 9-101915015-TA-T
• gnomAD v3: 9-99152733-TA-T
• gnomAD v4: 9-99152733-TA-T
• MyVariant Identifiers: chr9:g.101915017del (hg19) ; chr9:g.101915016del (hg19) ; chr9:g.99152735del (hg38) ; chr9:g.99152734del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99152735del , CM000671.2:g.99152735del	GRCh38
NC_000009.11:g.101915017del , CM000671.1:g.101915017del	GRCh37
NC_000009.10:g.100954838del	NCBI36
NG_007461.1:g.52606del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*3430del	ENSP00000449934.2:n.*3430del
ENST00000552573.7:c.*3430del	ENSP00000447182.3:n.*3430del
ENST00000374994.9:c.*3430del MANE Select	ENSP00000364133.4:n.*3430del
ENST00000374990.6:c.*3430del	ENSP00000364129.2:n.*3430del
ENST00000374994.8:c.*3430del	ENSP00000364133.4:n.*3430del
ENST00000552516.5:c.*3430del	ENSP00000447297.1:n.*3430del
NM_001130916.1:c.*3430del	NP_001124388.1:n.*3430del
NM_001130916.2:c.*3430del	NP_001124388.1:n.*3430del
NM_001306210.1:c.*3430del	NP_001293139.1:n.*3430del
NM_004612.2:c.*3430del	NP_004603.1:n.*3430del
NM_004612.3:c.*3430del	NP_004603.1:n.*3430del
XM_011518948.1:c.*3430del	XP_011517250.1:n.*3430del
XM_011518949.1:c.*3430del	XP_011517251.1:n.*3430del
XM_011518950.1:c.*3430del	XP_011517252.1:n.*3430del
NM_004612.4:c.*3430del MANE Select	NP_004603.1:n.*3430del
NM_001130916.3:c.*3430del	NP_001124388.1:n.*3430del
NM_001306210.2:c.*3430del	NP_001293139.1:n.*3430del