Canonical Allele Identifier: CA1867269048

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151123_99151125delinsCTA , CM000671.2:g.99151123_99151125delinsCTA	GRCh38
NC_000009.11:g.101913405_101913407delinsCTA , CM000671.1:g.101913405_101913407delinsCTA	GRCh37
NC_000009.10:g.100953226_100953228delinsCTA	NCBI36
NG_007461.1:g.50994_50996delinsCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*1818_*1820delinsCTA	ENSP00000449934.2:n.*1818_*1820delinsCTA
ENST00000552573.7:c.*1818_*1820delinsCTA	ENSP00000447182.3:n.*1818_*1820delinsCTA
ENST00000698941.1:c.*1818_*1820delinsCTA	ENSP00000514048.1:n.*1818_*1820delinsCTA
ENST00000698943.1:n.2897_2899delinsCTA
ENST00000374994.9:c.*1818_*1820delinsCTA MANE Select	ENSP00000364133.4:n.*1818_*1820delinsCTA
ENST00000374990.6:c.*1818_*1820delinsCTA	ENSP00000364129.2:n.*1818_*1820delinsCTA
ENST00000374994.8:c.*1818_*1820delinsCTA	ENSP00000364133.4:n.*1818_*1820delinsCTA
ENST00000552516.5:c.*1818_*1820delinsCTA	ENSP00000447297.1:n.*1818_*1820delinsCTA
NM_001130916.1:c.*1818_*1820delinsCTA	NP_001124388.1:n.*1818_*1820delinsCTA
NM_001130916.2:c.*1818_*1820delinsCTA	NP_001124388.1:n.*1818_*1820delinsCTA
NM_001306210.1:c.*1818_*1820delinsCTA	NP_001293139.1:n.*1818_*1820delinsCTA
NM_004612.2:c.*1818_*1820delinsCTA	NP_004603.1:n.*1818_*1820delinsCTA
NM_004612.3:c.*1818_*1820delinsCTA	NP_004603.1:n.*1818_*1820delinsCTA
XM_011518948.1:c.*1818_*1820delinsCTA	XP_011517250.1:n.*1818_*1820delinsCTA
XM_011518949.1:c.*1818_*1820delinsCTA	XP_011517251.1:n.*1818_*1820delinsCTA
XM_011518950.1:c.*1818_*1820delinsCTA	XP_011517252.1:n.*1818_*1820delinsCTA
NM_004612.4:c.*1818_*1820delinsCTA MANE Select	NP_004603.1:n.*1818_*1820delinsCTA
NM_001130916.3:c.*1818_*1820delinsCTA	NP_001124388.1:n.*1818_*1820delinsCTA
NM_001306210.2:c.*1818_*1820delinsCTA	NP_001293139.1:n.*1818_*1820delinsCTA