Canonical Allele Identifier: CA1867263592

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146352_99146354delinsTTC , CM000671.2:g.99146352_99146354delinsTTC	GRCh38
NC_000009.11:g.101908634_101908636delinsTTC , CM000671.1:g.101908634_101908636delinsTTC	GRCh37
NC_000009.10:g.100948455_100948457delinsTTC	NCBI36
NG_007461.1:g.46223_46225delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.924-133_924-131delinsTTC	ENSP00000449934.2:n.924-133_924-131delinsTTC
ENST00000552573.7:c.936-133_936-131delinsTTC	ENSP00000447182.3:n.936-133_936-131delinsTTC
ENST00000548365.6:c.*53-133_*53-131delinsTTC	ENSP00000448518.2:n.*53-133_*53-131delinsTTC
ENST00000549021.6:c.693-133_693-131delinsTTC	ENSP00000449028.2:n.693-133_693-131delinsTTC
ENST00000698941.1:c.936-133_936-131delinsTTC	ENSP00000514048.1:n.936-133_936-131delinsTTC
ENST00000698942.1:c.*927-133_*927-131delinsTTC	ENSP00000514049.1:n.*927-133_*927-131delinsTTC
ENST00000374994.9:c.1131-133_1131-131delinsTTC MANE Select	ENSP00000364133.4:n.1131-133_1131-131delinsTTC
ENST00000374990.6:c.900-133_900-131delinsTTC	ENSP00000364129.2:n.900-133_900-131delinsTTC
ENST00000374994.8:c.1131-133_1131-131delinsTTC	ENSP00000364133.4:n.1131-133_1131-131delinsTTC
ENST00000549766.5:c.1143-1302_1143-1300delinsTTC	ENSP00000446685.1:n.1143-1302_1143-1300delinsTTC
ENST00000550253.1:c.924-133_924-131delinsTTC	ENSP00000450052.1:n.924-133_924-131delinsTTC
ENST00000552516.5:c.1143-133_1143-131delinsTTC	ENSP00000447297.1:n.1143-133_1143-131delinsTTC
NM_001130916.1:c.900-133_900-131delinsTTC	NP_001124388.1:n.900-133_900-131delinsTTC
NM_001130916.2:c.900-133_900-131delinsTTC	NP_001124388.1:n.900-133_900-131delinsTTC
NM_001306210.1:c.1143-133_1143-131delinsTTC	NP_001293139.1:n.1143-133_1143-131delinsTTC
NM_004612.2:c.1131-133_1131-131delinsTTC	NP_004603.1:n.1131-133_1131-131delinsTTC
NM_004612.3:c.1131-133_1131-131delinsTTC	NP_004603.1:n.1131-133_1131-131delinsTTC
XM_011518948.1:c.936-133_936-131delinsTTC	XP_011517250.1:n.936-133_936-131delinsTTC
XM_011518949.1:c.924-133_924-131delinsTTC	XP_011517251.1:n.924-133_924-131delinsTTC
XM_011518950.1:c.693-133_693-131delinsTTC	XP_011517252.1:n.693-133_693-131delinsTTC
XM_011518948.2:c.936-133_936-131delinsTTC	XP_011517250.1:n.936-133_936-131delinsTTC
XM_011518949.2:c.924-133_924-131delinsTTC	XP_011517251.1:n.924-133_924-131delinsTTC
XM_011518950.2:c.693-133_693-131delinsTTC	XP_011517252.1:n.693-133_693-131delinsTTC
XM_017015063.1:c.936-133_936-131delinsTTC	XP_016870552.1:n.936-133_936-131delinsTTC
XM_024447658.1:c.924-133_924-131delinsTTC	XP_024303426.1:n.924-133_924-131delinsTTC
NM_004612.4:c.1131-133_1131-131delinsTTC MANE Select	NP_004603.1:n.1131-133_1131-131delinsTTC
NM_001130916.3:c.900-133_900-131delinsTTC	NP_001124388.1:n.900-133_900-131delinsTTC
NM_001306210.2:c.1143-133_1143-131delinsTTC	NP_001293139.1:n.1143-133_1143-131delinsTTC