Canonical Allele Identifier: CA589365463

Gene: TGFBR1

Linked Data

• dbSNP Id: rs879166510
• gnomAD v2: 9-101913668-GTT-G
• gnomAD v3: 9-99151386-GTT-G
• gnomAD v4: 9-99151386-GTT-G
• MyVariant Identifiers: chr9:g.101913669_101913670del (hg19) ; chr9:g.99151387_99151388del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151395_99151396del , CM000671.2:g.99151395_99151396del	GRCh38
NC_000009.11:g.101913677_101913678del , CM000671.1:g.101913677_101913678del	GRCh37
NC_000009.10:g.100953498_100953499del	NCBI36
NG_007461.1:g.51266_51267del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*2090_*2091del	ENSP00000449934.2:n.*2090_*2091del
ENST00000552573.7:c.*2090_*2091del	ENSP00000447182.3:n.*2090_*2091del
ENST00000374994.9:c.*2090_*2091del MANE Select	ENSP00000364133.4:n.*2090_*2091del
ENST00000374990.6:c.*2090_*2091del	ENSP00000364129.2:n.*2090_*2091del
ENST00000374994.8:c.*2090_*2091del	ENSP00000364133.4:n.*2090_*2091del
ENST00000552516.5:c.*2090_*2091del	ENSP00000447297.1:n.*2090_*2091del
NM_001130916.1:c.*2090_*2091del	NP_001124388.1:n.*2090_*2091del
NM_001130916.2:c.*2090_*2091del	NP_001124388.1:n.*2090_*2091del
NM_001306210.1:c.*2090_*2091del	NP_001293139.1:n.*2090_*2091del
NM_004612.2:c.*2090_*2091del	NP_004603.1:n.*2090_*2091del
NM_004612.3:c.*2090_*2091del	NP_004603.1:n.*2090_*2091del
XM_011518948.1:c.*2090_*2091del	XP_011517250.1:n.*2090_*2091del
XM_011518949.1:c.*2090_*2091del	XP_011517251.1:n.*2090_*2091del
XM_011518950.1:c.*2090_*2091del	XP_011517252.1:n.*2090_*2091del
NM_004612.4:c.*2090_*2091del MANE Select	NP_004603.1:n.*2090_*2091del
NM_001130916.3:c.*2090_*2091del	NP_001124388.1:n.*2090_*2091del
NM_001306210.2:c.*2090_*2091del	NP_001293139.1:n.*2090_*2091del