Canonical Allele Identifier: CA1867269850
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99151483_99151484delinsCA , CM000671.2:g.99151483_99151484delinsCA GRCh38
NC_000009.11:g.101913765_101913766delinsCA , CM000671.1:g.101913765_101913766delinsCA GRCh37
NC_000009.10:g.100953586_100953587delinsCA NCBI36
NG_007461.1:g.51354_51355delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.*2178_*2179delinsCA ENSP00000449934.2:n.*2178_*2179delinsCA
ENST00000552573.7:c.*2178_*2179delinsCA ENSP00000447182.3:n.*2178_*2179delinsCA
ENST00000374994.9:c.*2178_*2179delinsCA MANE Select ENSP00000364133.4:n.*2178_*2179delinsCA
ENST00000374990.6:c.*2178_*2179delinsCA ENSP00000364129.2:n.*2178_*2179delinsCA
ENST00000374994.8:c.*2178_*2179delinsCA ENSP00000364133.4:n.*2178_*2179delinsCA
ENST00000552516.5:c.*2178_*2179delinsCA ENSP00000447297.1:n.*2178_*2179delinsCA
NM_001130916.1:c.*2178_*2179delinsCA NP_001124388.1:n.*2178_*2179delinsCA
NM_001130916.2:c.*2178_*2179delinsCA NP_001124388.1:n.*2178_*2179delinsCA
NM_001306210.1:c.*2178_*2179delinsCA NP_001293139.1:n.*2178_*2179delinsCA
NM_004612.2:c.*2178_*2179delinsCA NP_004603.1:n.*2178_*2179delinsCA
NM_004612.3:c.*2178_*2179delinsCA NP_004603.1:n.*2178_*2179delinsCA
XM_011518948.1:c.*2178_*2179delinsCA XP_011517250.1:n.*2178_*2179delinsCA
XM_011518949.1:c.*2178_*2179delinsCA XP_011517251.1:n.*2178_*2179delinsCA
XM_011518950.1:c.*2178_*2179delinsCA XP_011517252.1:n.*2178_*2179delinsCA
NM_004612.4:c.*2178_*2179delinsCA MANE Select NP_004603.1:n.*2178_*2179delinsCA
NM_001130916.3:c.*2178_*2179delinsCA NP_001124388.1:n.*2178_*2179delinsCA
NM_001306210.2:c.*2178_*2179delinsCA NP_001293139.1:n.*2178_*2179delinsCA