Canonical Allele Identifier: CA589361872

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1168123102
• gnomAD v2: 9-101904594-ACT-A
• gnomAD v3: 9-99142312-ACT-A
• gnomAD v4: 9-99142312-ACT-A
• MyVariant Identifiers: chr9:g.101904595_101904596del (hg19) ; chr9:g.99142313_99142314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142313_99142314del , CM000671.2:g.99142313_99142314del	GRCh38
NC_000009.11:g.101904595_101904596del , CM000671.1:g.101904595_101904596del	GRCh37
NC_000009.10:g.100944416_100944417del	NCBI36
NG_007461.1:g.42184_42185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.599-223_599-222del	ENSP00000449934.2:n.599-223_599-222del
ENST00000552573.7:c.611-223_611-222del	ENSP00000447182.3:n.611-223_611-222del
ENST00000548365.6:c.380-223_380-222del	ENSP00000448518.2:n.380-223_380-222del
ENST00000549021.6:c.368-223_368-222del	ENSP00000449028.2:n.368-223_368-222del
ENST00000698941.1:c.611-223_611-222del	ENSP00000514048.1:n.611-223_611-222del
ENST00000698942.1:c.*602-223_*602-222del	ENSP00000514049.1:n.*602-223_*602-222del
ENST00000374994.9:c.806-223_806-222del MANE Select	ENSP00000364133.4:n.806-223_806-222del
ENST00000374990.6:c.575-223_575-222del	ENSP00000364129.2:n.575-223_575-222del
ENST00000374994.8:c.806-223_806-222del	ENSP00000364133.4:n.806-223_806-222del
ENST00000549766.5:c.818-223_818-222del	ENSP00000446685.1:n.818-223_818-222del
ENST00000550253.1:c.599-223_599-222del	ENSP00000450052.1:n.599-223_599-222del
ENST00000552516.5:c.818-223_818-222del	ENSP00000447297.1:n.818-223_818-222del
NM_001130916.1:c.575-223_575-222del	NP_001124388.1:n.575-223_575-222del
NM_001130916.2:c.575-223_575-222del	NP_001124388.1:n.575-223_575-222del
NM_001306210.1:c.818-223_818-222del	NP_001293139.1:n.818-223_818-222del
NM_004612.2:c.806-223_806-222del	NP_004603.1:n.806-223_806-222del
NM_004612.3:c.806-223_806-222del	NP_004603.1:n.806-223_806-222del
XM_011518948.1:c.611-223_611-222del	XP_011517250.1:n.611-223_611-222del
XM_011518949.1:c.599-223_599-222del	XP_011517251.1:n.599-223_599-222del
XM_011518950.1:c.368-223_368-222del	XP_011517252.1:n.368-223_368-222del
XM_011518948.2:c.611-223_611-222del	XP_011517250.1:n.611-223_611-222del
XM_011518949.2:c.599-223_599-222del	XP_011517251.1:n.599-223_599-222del
XM_011518950.2:c.368-223_368-222del	XP_011517252.1:n.368-223_368-222del
XM_017015063.1:c.611-223_611-222del	XP_016870552.1:n.611-223_611-222del
XM_024447658.1:c.599-223_599-222del	XP_024303426.1:n.599-223_599-222del
NM_004612.4:c.806-223_806-222del MANE Select	NP_004603.1:n.806-223_806-222del
NM_001130916.3:c.575-223_575-222del	NP_001124388.1:n.575-223_575-222del
NM_001306210.2:c.818-223_818-222del	NP_001293139.1:n.818-223_818-222del