Canonical Allele Identifier: CA1867275234
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99154168_99154173delinsGAAATT , CM000671.2:g.99154168_99154173delinsGAAATT GRCh38
NC_000009.11:g.101916450_101916455delinsGAAATT , CM000671.1:g.101916450_101916455delinsGAAATT GRCh37
NC_000009.10:g.100956271_100956276delinsGAAATT NCBI36
NG_007461.1:g.54039_54044delinsGAAATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.*4863_*4868delinsGAAATT ENSP00000449934.2:n.*4863_*4868delinsGAAATT
ENST00000552573.7:c.*4863_*4868delinsGAAATT ENSP00000447182.3:n.*4863_*4868delinsGAAATT
ENST00000374994.9:c.*4863_*4868delinsGAAATT MANE Select ENSP00000364133.4:n.*4863_*4868delinsGAAATT
ENST00000374994.8:c.*4863_*4868delinsGAAATT ENSP00000364133.4:n.*4863_*4868delinsGAAATT
NM_001130916.1:c.*4863_*4868delinsGAAATT NP_001124388.1:n.*4863_*4868delinsGAAATT
NM_001130916.2:c.*4863_*4868delinsGAAATT NP_001124388.1:n.*4863_*4868delinsGAAATT
NM_001306210.1:c.*4863_*4868delinsGAAATT NP_001293139.1:n.*4863_*4868delinsGAAATT
NM_004612.2:c.*4863_*4868delinsGAAATT NP_004603.1:n.*4863_*4868delinsGAAATT
NM_004612.3:c.*4863_*4868delinsGAAATT NP_004603.1:n.*4863_*4868delinsGAAATT
NM_004612.4:c.*4863_*4868delinsGAAATT MANE Select NP_004603.1:n.*4863_*4868delinsGAAATT
NM_001130916.3:c.*4863_*4868delinsGAAATT NP_001124388.1:n.*4863_*4868delinsGAAATT
NM_001306210.2:c.*4863_*4868delinsGAAATT NP_001293139.1:n.*4863_*4868delinsGAAATT