Canonical Allele Identifier: CA2503315796

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151113_99151114insC , CM000671.2:g.99151113_99151114insC	GRCh38
NC_000009.11:g.101913395_101913396insC , CM000671.1:g.101913395_101913396insC	GRCh37
NC_000009.10:g.100953216_100953217insC	NCBI36
NG_007461.1:g.50984_50985insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*1808_*1809insC	ENSP00000449934.2:n.*1808_*1809insC
ENST00000552573.7:c.*1808_*1809insC	ENSP00000447182.3:n.*1808_*1809insC
ENST00000698941.1:c.*1808_*1809insC	ENSP00000514048.1:n.*1808_*1809insC
ENST00000698943.1:n.2887_2888insC
ENST00000374994.9:c.*1808_*1809insC MANE Select	ENSP00000364133.4:n.*1808_*1809insC
ENST00000374990.6:c.*1808_*1809insC	ENSP00000364129.2:n.*1808_*1809insC
ENST00000374994.8:c.*1808_*1809insC	ENSP00000364133.4:n.*1808_*1809insC
ENST00000552516.5:c.*1808_*1809insC	ENSP00000447297.1:n.*1808_*1809insC
NM_001130916.1:c.*1808_*1809insC	NP_001124388.1:n.*1808_*1809insC
NM_001130916.2:c.*1808_*1809insC	NP_001124388.1:n.*1808_*1809insC
NM_001306210.1:c.*1808_*1809insC	NP_001293139.1:n.*1808_*1809insC
NM_004612.2:c.*1808_*1809insC	NP_004603.1:n.*1808_*1809insC
NM_004612.3:c.*1808_*1809insC	NP_004603.1:n.*1808_*1809insC
XM_011518948.1:c.*1808_*1809insC	XP_011517250.1:n.*1808_*1809insC
XM_011518949.1:c.*1808_*1809insC	XP_011517251.1:n.*1808_*1809insC
XM_011518950.1:c.*1808_*1809insC	XP_011517252.1:n.*1808_*1809insC
NM_004612.4:c.*1808_*1809insC MANE Select	NP_004603.1:n.*1808_*1809insC
NM_001130916.3:c.*1808_*1809insC	NP_001124388.1:n.*1808_*1809insC
NM_001306210.2:c.*1808_*1809insC	NP_001293139.1:n.*1808_*1809insC