Canonical Allele Identifier: CA1867263598

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146359_99146361delinsGTC , CM000671.2:g.99146359_99146361delinsGTC	GRCh38
NC_000009.11:g.101908641_101908643delinsGTC , CM000671.1:g.101908641_101908643delinsGTC	GRCh37
NC_000009.10:g.100948462_100948464delinsGTC	NCBI36
NG_007461.1:g.46230_46232delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.924-126_924-124delinsGTC	ENSP00000449934.2:n.924-126_924-124delinsGTC
ENST00000552573.7:c.936-126_936-124delinsGTC	ENSP00000447182.3:n.936-126_936-124delinsGTC
ENST00000548365.6:c.*53-126_*53-124delinsGTC	ENSP00000448518.2:n.*53-126_*53-124delinsGTC
ENST00000549021.6:c.693-126_693-124delinsGTC	ENSP00000449028.2:n.693-126_693-124delinsGTC
ENST00000698941.1:c.936-126_936-124delinsGTC	ENSP00000514048.1:n.936-126_936-124delinsGTC
ENST00000698942.1:c.*927-126_*927-124delinsGTC	ENSP00000514049.1:n.*927-126_*927-124delinsGTC
ENST00000374994.9:c.1131-126_1131-124delinsGTC MANE Select	ENSP00000364133.4:n.1131-126_1131-124delinsGTC
ENST00000374990.6:c.900-126_900-124delinsGTC	ENSP00000364129.2:n.900-126_900-124delinsGTC
ENST00000374994.8:c.1131-126_1131-124delinsGTC	ENSP00000364133.4:n.1131-126_1131-124delinsGTC
ENST00000549766.5:c.1143-1295_1143-1293delinsGTC	ENSP00000446685.1:n.1143-1295_1143-1293delinsGTC
ENST00000550253.1:c.924-126_924-124delinsGTC	ENSP00000450052.1:n.924-126_924-124delinsGTC
ENST00000552516.5:c.1143-126_1143-124delinsGTC	ENSP00000447297.1:n.1143-126_1143-124delinsGTC
NM_001130916.1:c.900-126_900-124delinsGTC	NP_001124388.1:n.900-126_900-124delinsGTC
NM_001130916.2:c.900-126_900-124delinsGTC	NP_001124388.1:n.900-126_900-124delinsGTC
NM_001306210.1:c.1143-126_1143-124delinsGTC	NP_001293139.1:n.1143-126_1143-124delinsGTC
NM_004612.2:c.1131-126_1131-124delinsGTC	NP_004603.1:n.1131-126_1131-124delinsGTC
NM_004612.3:c.1131-126_1131-124delinsGTC	NP_004603.1:n.1131-126_1131-124delinsGTC
XM_011518948.1:c.936-126_936-124delinsGTC	XP_011517250.1:n.936-126_936-124delinsGTC
XM_011518949.1:c.924-126_924-124delinsGTC	XP_011517251.1:n.924-126_924-124delinsGTC
XM_011518950.1:c.693-126_693-124delinsGTC	XP_011517252.1:n.693-126_693-124delinsGTC
XM_011518948.2:c.936-126_936-124delinsGTC	XP_011517250.1:n.936-126_936-124delinsGTC
XM_011518949.2:c.924-126_924-124delinsGTC	XP_011517251.1:n.924-126_924-124delinsGTC
XM_011518950.2:c.693-126_693-124delinsGTC	XP_011517252.1:n.693-126_693-124delinsGTC
XM_017015063.1:c.936-126_936-124delinsGTC	XP_016870552.1:n.936-126_936-124delinsGTC
XM_024447658.1:c.924-126_924-124delinsGTC	XP_024303426.1:n.924-126_924-124delinsGTC
NM_004612.4:c.1131-126_1131-124delinsGTC MANE Select	NP_004603.1:n.1131-126_1131-124delinsGTC
NM_001130916.3:c.900-126_900-124delinsGTC	NP_001124388.1:n.900-126_900-124delinsGTC
NM_001306210.2:c.1143-126_1143-124delinsGTC	NP_001293139.1:n.1143-126_1143-124delinsGTC