Canonical Allele Identifier: CA1867271073

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99152152_99152159delinsGAGTAAAA , CM000671.2:g.99152152_99152159delinsGAGTAAAA	GRCh38
NC_000009.11:g.101914434_101914441delinsGAGTAAAA , CM000671.1:g.101914434_101914441delinsGAGTAAAA	GRCh37
NC_000009.10:g.100954255_100954262delinsGAGTAAAA	NCBI36
NG_007461.1:g.52023_52030delinsGAGTAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*2847_*2854delinsGAGTAAAA	ENSP00000449934.2:n.*2847_*2854delinsGAGTAAAA
ENST00000552573.7:c.*2847_*2854delinsGAGTAAAA	ENSP00000447182.3:n.*2847_*2854delinsGAGTAAAA
ENST00000374994.9:c.*2847_*2854delinsGAGTAAAA MANE Select	ENSP00000364133.4:n.*2847_*2854delinsGAGTAAAA
ENST00000374990.6:c.*2847_*2854delinsGAGTAAAA	ENSP00000364129.2:n.*2847_*2854delinsGAGTAAAA
ENST00000374994.8:c.*2847_*2854delinsGAGTAAAA	ENSP00000364133.4:n.*2847_*2854delinsGAGTAAAA
ENST00000552516.5:c.*2847_*2854delinsGAGTAAAA	ENSP00000447297.1:n.*2847_*2854delinsGAGTAAAA
NM_001130916.1:c.*2847_*2854delinsGAGTAAAA	NP_001124388.1:n.*2847_*2854delinsGAGTAAAA
NM_001130916.2:c.*2847_*2854delinsGAGTAAAA	NP_001124388.1:n.*2847_*2854delinsGAGTAAAA
NM_001306210.1:c.*2847_*2854delinsGAGTAAAA	NP_001293139.1:n.*2847_*2854delinsGAGTAAAA
NM_004612.2:c.*2847_*2854delinsGAGTAAAA	NP_004603.1:n.*2847_*2854delinsGAGTAAAA
NM_004612.3:c.*2847_*2854delinsGAGTAAAA	NP_004603.1:n.*2847_*2854delinsGAGTAAAA
XM_011518948.1:c.*2847_*2854delinsGAGTAAAA	XP_011517250.1:n.*2847_*2854delinsGAGTAAAA
XM_011518949.1:c.*2847_*2854delinsGAGTAAAA	XP_011517251.1:n.*2847_*2854delinsGAGTAAAA
XM_011518950.1:c.*2847_*2854delinsGAGTAAAA	XP_011517252.1:n.*2847_*2854delinsGAGTAAAA
NM_004612.4:c.*2847_*2854delinsGAGTAAAA MANE Select	NP_004603.1:n.*2847_*2854delinsGAGTAAAA
NM_001130916.3:c.*2847_*2854delinsGAGTAAAA	NP_001124388.1:n.*2847_*2854delinsGAGTAAAA
NM_001306210.2:c.*2847_*2854delinsGAGTAAAA	NP_001293139.1:n.*2847_*2854delinsGAGTAAAA