Canonical Allele Identifier: CA2690966008

Gene: TGFBR1

Linked Data

• gnomAD v4: 9-99142679-CACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142680_99142682del , CM000671.2:g.99142680_99142682del	GRCh38
NC_000009.11:g.101904962_101904964del , CM000671.1:g.101904962_101904964del	GRCh37
NC_000009.10:g.100944783_100944785del	NCBI36
NG_007461.1:g.42551_42553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.743_745del	ENSP00000449934.2:p.His248_Met249delinsLeu
ENST00000552573.7:c.755_757del	ENSP00000447182.3:p.His252_Met253delinsLeu
ENST00000548365.6:c.524_526del	ENSP00000448518.2:p.His175_Met176delinsLeu
ENST00000549021.6:c.512_514del	ENSP00000449028.2:p.His171_Met172delinsLeu
ENST00000698941.1:c.755_757del	ENSP00000514048.1:p.His252_Met253delinsLeu
ENST00000698942.1:c.*746_*748del	ENSP00000514049.1:n.*746_*748del
ENST00000374994.9:c.950_952del MANE Select	ENSP00000364133.4:p.His317_Met318delinsLeu
ENST00000374990.6:c.719_721del	ENSP00000364129.2:p.His240_Met241delinsLeu
ENST00000374994.8:c.950_952del	ENSP00000364133.4:p.His317_Met318delinsLeu
ENST00000549766.5:c.962_964del	ENSP00000446685.1:p.His321_Met322delinsLeu
ENST00000550253.1:c.743_745del	ENSP00000450052.1:p.His248_Met249delinsLeu
ENST00000552516.5:c.962_964del	ENSP00000447297.1:p.His321_Met322delinsLeu
NM_001130916.1:c.719_721del	NP_001124388.1:p.His240_Met241delinsLeu
NM_001130916.2:c.719_721del	NP_001124388.1:p.His240_Met241delinsLeu
NM_001306210.1:c.962_964del	NP_001293139.1:p.His321_Met322delinsLeu
NM_004612.2:c.950_952del	NP_004603.1:p.His317_Met318delinsLeu
NM_004612.3:c.950_952del	NP_004603.1:p.His317_Met318delinsLeu
XM_011518948.1:c.755_757del	XP_011517250.1:p.His252_Met253delinsLeu
XM_011518949.1:c.743_745del	XP_011517251.1:p.His248_Met249delinsLeu
XM_011518950.1:c.512_514del	XP_011517252.1:p.His171_Met172delinsLeu
XM_011518948.2:c.755_757del	XP_011517250.1:p.His252_Met253delinsLeu
XM_011518949.2:c.743_745del	XP_011517251.1:p.His248_Met249delinsLeu
XM_011518950.2:c.512_514del	XP_011517252.1:p.His171_Met172delinsLeu
XM_017015063.1:c.755_757del	XP_016870552.1:p.His252_Met253delinsLeu
XM_024447658.1:c.743_745del	XP_024303426.1:p.His248_Met249delinsLeu
NM_004612.4:c.950_952del MANE Select	NP_004603.1:p.His317_Met318delinsLeu
NM_001130916.3:c.719_721del	NP_001124388.1:p.His240_Met241delinsLeu
NM_001306210.2:c.962_964del	NP_001293139.1:p.His321_Met322delinsLeu