Canonical Allele Identifier: CA2695203280

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99132636_99132638del , CM000671.2:g.99132636_99132638del	GRCh38
NC_000009.11:g.101894918_101894920del , CM000671.1:g.101894918_101894920del	GRCh37
NC_000009.10:g.100934739_100934741del	NCBI36
NG_007461.1:g.32507_32509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.264_266del	ENSP00000449934.2:p.Val89del
ENST00000552573.7:c.276_278del	ENSP00000447182.3:p.Val93del
ENST00000548365.6:c.276_278del	ENSP00000448518.2:p.Val93del
ENST00000549021.6:c.136+3536_136+3538del	ENSP00000449028.2:n.136+3536_136+3538del
ENST00000698941.1:c.276_278del	ENSP00000514048.1:p.Val93del
ENST00000698942.1:c.*267_*269del	ENSP00000514049.1:n.*267_*269del
ENST00000374994.9:c.471_473del MANE Select	ENSP00000364133.4:p.Val158del
ENST00000374990.6:c.343+3536_343+3538del	ENSP00000364129.2:n.343+3536_343+3538del
ENST00000374994.8:c.471_473del	ENSP00000364133.4:p.Val158del
ENST00000546584.1:c.264_266del	ENSP00000447707.2:p.Val89del
ENST00000547314.5:c.264_266del	ENSP00000449934.1:p.Val89del
ENST00000548365.5:c.276_278del	ENSP00000448518.1:p.Val93del
ENST00000549021.5:c.136+3536_136+3538del	ENSP00000449028.1:n.136+3536_136+3538del
ENST00000549766.5:c.483_485del	ENSP00000446685.1:p.Val162del
ENST00000550253.1:c.264_266del	ENSP00000450052.1:p.Val89del
ENST00000552516.5:c.483_485del	ENSP00000447297.1:p.Val162del
ENST00000552573.6:c.276_278del	ENSP00000447182.2:p.Val93del
NM_001130916.1:c.343+3536_343+3538del	NP_001124388.1:n.343+3536_343+3538del
NM_001130916.2:c.343+3536_343+3538del	NP_001124388.1:n.343+3536_343+3538del
NM_001306210.1:c.483_485del	NP_001293139.1:p.Val162del
NM_004612.2:c.471_473del	NP_004603.1:p.Val158del
NM_004612.3:c.471_473del	NP_004603.1:p.Val158del
XM_011518948.1:c.276_278del	XP_011517250.1:p.Val93del
XM_011518949.1:c.264_266del	XP_011517251.1:p.Val89del
XM_011518950.1:c.136+3536_136+3538del	XP_011517252.1:n.136+3536_136+3538del
XM_011518948.2:c.276_278del	XP_011517250.1:p.Val93del
XM_011518949.2:c.264_266del	XP_011517251.1:p.Val89del
XM_011518950.2:c.136+3536_136+3538del	XP_011517252.1:n.136+3536_136+3538del
XM_017015063.1:c.276_278del	XP_016870552.1:p.Val93del
XM_024447658.1:c.264_266del	XP_024303426.1:p.Val89del
NM_004612.4:c.471_473del MANE Select	NP_004603.1:p.Val158del
NM_001130916.3:c.343+3536_343+3538del	NP_001124388.1:n.343+3536_343+3538del
NM_001306210.2:c.483_485del	NP_001293139.1:p.Val162del