Canonical Allele Identifier: CA2560495551

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142696_99142697insTTTATACTTTTATGTACACATCCTTT , CM000671.2:g.99142696_99142697insTTTATACTTTTATGTACACATCCTTT	GRCh38
NC_000009.11:g.101904978_101904979insTTTATACTTTTATGTACACATCCTTT , CM000671.1:g.101904978_101904979insTTTATACTTTTATGTACACATCCTTT	GRCh37
NC_000009.10:g.100944799_100944800insTTTATACTTTTATGTACACATCCTTT	NCBI36
NG_007461.1:g.42567_42568insTTTATACTTTTATGTACACATCCTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.759_760insTTTATACTTTTATGTACACATCCTTT	ENSP00000449934.2:p.Thr254PhefsTer21
ENST00000552573.7:c.771_772insTTTATACTTTTATGTACACATCCTTT	ENSP00000447182.3:p.Thr258PhefsTer21
ENST00000548365.6:c.540_541insTTTATACTTTTATGTACACATCCTTT	ENSP00000448518.2:p.Thr181PhefsTer21
ENST00000549021.6:c.528_529insTTTATACTTTTATGTACACATCCTTT	ENSP00000449028.2:p.Thr177PhefsTer21
ENST00000698941.1:c.771_772insTTTATACTTTTATGTACACATCCTTT	ENSP00000514048.1:p.Thr258PhefsTer21
ENST00000698942.1:c.*762_*763insTTTATACTTTTATGTACACATCCTTT	ENSP00000514049.1:n.*762_*763insTTTATACTT...
ENST00000374994.9:c.966_967insTTTATACTTTTATGTACACATCCTTT MANE Select	ENSP00000364133.4:p.Thr323PhefsTer21
ENST00000374990.6:c.735_736insTTTATACTTTTATGTACACATCCTTT	ENSP00000364129.2:p.Thr246PhefsTer21
ENST00000374994.8:c.966_967insTTTATACTTTTATGTACACATCCTTT	ENSP00000364133.4:p.Thr323PhefsTer21
ENST00000549766.5:c.978_979insTTTATACTTTTATGTACACATCCTTT	ENSP00000446685.1:p.Thr327PhefsTer21
ENST00000550253.1:c.759_760insTTTATACTTTTATGTACACATCCTTT	ENSP00000450052.1:p.Thr254PhefsTer21
ENST00000552516.5:c.978_979insTTTATACTTTTATGTACACATCCTTT	ENSP00000447297.1:p.Thr327PhefsTer21
NM_001130916.1:c.735_736insTTTATACTTTTATGTACACATCCTTT	NP_001124388.1:p.Thr246PhefsTer21
NM_001130916.2:c.735_736insTTTATACTTTTATGTACACATCCTTT	NP_001124388.1:p.Thr246PhefsTer21
NM_001306210.1:c.978_979insTTTATACTTTTATGTACACATCCTTT	NP_001293139.1:p.Thr327PhefsTer21
NM_004612.2:c.966_967insTTTATACTTTTATGTACACATCCTTT	NP_004603.1:p.Thr323PhefsTer21
NM_004612.3:c.966_967insTTTATACTTTTATGTACACATCCTTT	NP_004603.1:p.Thr323PhefsTer21
XM_011518948.1:c.771_772insTTTATACTTTTATGTACACATCCTTT	XP_011517250.1:p.Thr258PhefsTer21
XM_011518949.1:c.759_760insTTTATACTTTTATGTACACATCCTTT	XP_011517251.1:p.Thr254PhefsTer21
XM_011518950.1:c.528_529insTTTATACTTTTATGTACACATCCTTT	XP_011517252.1:p.Thr177PhefsTer21
XM_011518948.2:c.771_772insTTTATACTTTTATGTACACATCCTTT	XP_011517250.1:p.Thr258PhefsTer21
XM_011518949.2:c.759_760insTTTATACTTTTATGTACACATCCTTT	XP_011517251.1:p.Thr254PhefsTer21
XM_011518950.2:c.528_529insTTTATACTTTTATGTACACATCCTTT	XP_011517252.1:p.Thr177PhefsTer21
XM_017015063.1:c.771_772insTTTATACTTTTATGTACACATCCTTT	XP_016870552.1:p.Thr258PhefsTer21
XM_024447658.1:c.759_760insTTTATACTTTTATGTACACATCCTTT	XP_024303426.1:p.Thr254PhefsTer21
NM_004612.4:c.966_967insTTTATACTTTTATGTACACATCCTTT MANE Select	NP_004603.1:p.Thr323PhefsTer21
NM_001130916.3:c.735_736insTTTATACTTTTATGTACACATCCTTT	NP_001124388.1:p.Thr246PhefsTer21
NM_001306210.2:c.978_979insTTTATACTTTTATGTACACATCCTTT	NP_001293139.1:p.Thr327PhefsTer21