Canonical Allele Identifier: CA1867269232

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151227_99151228delinsAG , CM000671.2:g.99151227_99151228delinsAG	GRCh38
NC_000009.11:g.101913509_101913510delinsAG , CM000671.1:g.101913509_101913510delinsAG	GRCh37
NC_000009.10:g.100953330_100953331delinsAG	NCBI36
NG_007461.1:g.51098_51099delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*1922_*1923delinsAG	ENSP00000449934.2:n.*1922_*1923delinsAG
ENST00000552573.7:c.*1922_*1923delinsAG	ENSP00000447182.3:n.*1922_*1923delinsAG
ENST00000698941.1:c.*1922_*1923delinsAG	ENSP00000514048.1:n.*1922_*1923delinsAG
ENST00000698943.1:n.3001_3002delinsAG
ENST00000374994.9:c.*1922_*1923delinsAG MANE Select	ENSP00000364133.4:n.*1922_*1923delinsAG
ENST00000374990.6:c.*1922_*1923delinsAG	ENSP00000364129.2:n.*1922_*1923delinsAG
ENST00000374994.8:c.*1922_*1923delinsAG	ENSP00000364133.4:n.*1922_*1923delinsAG
ENST00000552516.5:c.*1922_*1923delinsAG	ENSP00000447297.1:n.*1922_*1923delinsAG
NM_001130916.1:c.*1922_*1923delinsAG	NP_001124388.1:n.*1922_*1923delinsAG
NM_001130916.2:c.*1922_*1923delinsAG	NP_001124388.1:n.*1922_*1923delinsAG
NM_001306210.1:c.*1922_*1923delinsAG	NP_001293139.1:n.*1922_*1923delinsAG
NM_004612.2:c.*1922_*1923delinsAG	NP_004603.1:n.*1922_*1923delinsAG
NM_004612.3:c.*1922_*1923delinsAG	NP_004603.1:n.*1922_*1923delinsAG
XM_011518948.1:c.*1922_*1923delinsAG	XP_011517250.1:n.*1922_*1923delinsAG
XM_011518949.1:c.*1922_*1923delinsAG	XP_011517251.1:n.*1922_*1923delinsAG
XM_011518950.1:c.*1922_*1923delinsAG	XP_011517252.1:n.*1922_*1923delinsAG
NM_004612.4:c.*1922_*1923delinsAG MANE Select	NP_004603.1:n.*1922_*1923delinsAG
NM_001130916.3:c.*1922_*1923delinsAG	NP_001124388.1:n.*1922_*1923delinsAG
NM_001306210.2:c.*1922_*1923delinsAG	NP_001293139.1:n.*1922_*1923delinsAG