Canonical Allele Identifier: CA589365461

Gene: TGFBR1

Linked Data

• gnomAD v2: 9-101913668-G-GTTT
• gnomAD v3: 9-99151386-G-GTTT
• gnomAD v4: 9-99151386-G-GTTT
• MyVariant Identifiers: chr9:g.101913670_101913671insTTT (hg19) ; chr9:g.99151388_99151389insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151394_99151396dup , CM000671.2:g.99151394_99151396dup	GRCh38
NC_000009.11:g.101913676_101913678dup , CM000671.1:g.101913676_101913678dup	GRCh37
NC_000009.10:g.100953497_100953499dup	NCBI36
NG_007461.1:g.51265_51267dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*2089_*2091dup	ENSP00000449934.2:n.*2089_*2091dup
ENST00000552573.7:c.*2089_*2091dup	ENSP00000447182.3:n.*2089_*2091dup
ENST00000374994.9:c.*2089_*2091dup MANE Select	ENSP00000364133.4:n.*2089_*2091dup
ENST00000374990.6:c.*2089_*2091dup	ENSP00000364129.2:n.*2089_*2091dup
ENST00000374994.8:c.*2089_*2091dup	ENSP00000364133.4:n.*2089_*2091dup
ENST00000552516.5:c.*2089_*2091dup	ENSP00000447297.1:n.*2089_*2091dup
NM_001130916.1:c.*2089_*2091dup	NP_001124388.1:n.*2089_*2091dup
NM_001130916.2:c.*2089_*2091dup	NP_001124388.1:n.*2089_*2091dup
NM_001306210.1:c.*2089_*2091dup	NP_001293139.1:n.*2089_*2091dup
NM_004612.2:c.*2089_*2091dup	NP_004603.1:n.*2089_*2091dup
NM_004612.3:c.*2089_*2091dup	NP_004603.1:n.*2089_*2091dup
XM_011518948.1:c.*2089_*2091dup	XP_011517250.1:n.*2089_*2091dup
XM_011518949.1:c.*2089_*2091dup	XP_011517251.1:n.*2089_*2091dup
XM_011518950.1:c.*2089_*2091dup	XP_011517252.1:n.*2089_*2091dup
NM_004612.4:c.*2089_*2091dup MANE Select	NP_004603.1:n.*2089_*2091dup
NM_001130916.3:c.*2089_*2091dup	NP_001124388.1:n.*2089_*2091dup
NM_001306210.2:c.*2089_*2091dup	NP_001293139.1:n.*2089_*2091dup