Canonical Allele Identifier: CA10634284

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 364107
• ClinVar RCV Id: RCV000288063 ; RCV000345326 ; RCV000380283
• dbSNP Id: rs777186940
• gnomAD v2: 9-101912094-CTCTTA-C
• gnomAD v3: 9-99149812-CTCTTA-C
• gnomAD v4: 9-99149812-CTCTTA-C
• MyVariant Identifiers: chr9:g.101912099_101912103del (hg19) ; chr9:g.101912095_101912099del (hg19) ; chr9:g.99149817_99149821del (hg38) ; chr9:g.99149813_99149817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99149817_99149821del , CM000671.2:g.99149817_99149821del	GRCh38
NC_000009.11:g.101912099_101912103del , CM000671.1:g.101912099_101912103del	GRCh37
NC_000009.10:g.100951920_100951924del	NCBI36
NG_007461.1:g.49688_49692del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*512_*516del	ENSP00000449934.2:n.*512_*516del
ENST00000552573.7:c.*512_*516del	ENSP00000447182.3:n.*512_*516del
ENST00000698941.1:c.*512_*516del	ENSP00000514048.1:n.*512_*516del
ENST00000698943.1:n.1591_1595del
ENST00000374994.9:c.*512_*516del MANE Select	ENSP00000364133.4:n.*512_*516del
ENST00000374990.6:c.*512_*516del	ENSP00000364129.2:n.*512_*516del
ENST00000374994.8:c.*512_*516del	ENSP00000364133.4:n.*512_*516del
ENST00000552516.5:c.*512_*516del	ENSP00000447297.1:n.*512_*516del
NM_001130916.1:c.*512_*516del	NP_001124388.1:n.*512_*516del
NM_001130916.2:c.*512_*516del	NP_001124388.1:n.*512_*516del
NM_001306210.1:c.*512_*516del	NP_001293139.1:n.*512_*516del
NM_004612.2:c.*512_*516del	NP_004603.1:n.*512_*516del
NM_004612.3:c.*512_*516del	NP_004603.1:n.*512_*516del
XM_011518948.1:c.*512_*516del	XP_011517250.1:n.*512_*516del
XM_011518949.1:c.*512_*516del	XP_011517251.1:n.*512_*516del
XM_011518950.1:c.*512_*516del	XP_011517252.1:n.*512_*516del
XM_011518948.2:c.*512_*516del	XP_011517250.1:n.*512_*516del
XM_011518949.2:c.*512_*516del	XP_011517251.1:n.*512_*516del
XM_011518950.2:c.*512_*516del	XP_011517252.1:n.*512_*516del
XM_017015063.1:c.*512_*516del	XP_016870552.1:n.*512_*516del
XM_024447658.1:c.*512_*516del	XP_024303426.1:n.*512_*516del
NM_004612.4:c.*512_*516del MANE Select	NP_004603.1:n.*512_*516del
NM_001130916.3:c.*512_*516del	NP_001124388.1:n.*512_*516del
NM_001306210.2:c.*512_*516del	NP_001293139.1:n.*512_*516del