Canonical Allele Identifier: CA2785270379

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146488_99146489del , CM000671.2:g.99146488_99146489del	GRCh38
NC_000009.11:g.101908770_101908771del , CM000671.1:g.101908770_101908771del	GRCh37
NC_000009.10:g.100948591_100948592del	NCBI36
NG_007461.1:g.46359_46360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.927_928del	ENSP00000449934.2:p.Met310GlyfsTer3
ENST00000552573.7:c.939_940del	ENSP00000447182.3:p.Met314GlyfsTer3
ENST00000548365.6:c.*56_*57del	ENSP00000448518.2:n.*56_*57del
ENST00000549021.6:c.696_697del	ENSP00000449028.2:p.Met233GlyfsTer3
ENST00000698941.1:c.939_940del	ENSP00000514048.1:p.Met314GlyfsTer3
ENST00000698942.1:c.*930_*931del	ENSP00000514049.1:n.*930_*931del
ENST00000374994.9:c.1134_1135del MANE Select	ENSP00000364133.4:p.Met379GlyfsTer3
ENST00000374990.6:c.903_904del	ENSP00000364129.2:p.Met302GlyfsTer3
ENST00000374994.8:c.1134_1135del	ENSP00000364133.4:p.Met379GlyfsTer3
ENST00000549766.5:c.1143-1166_1143-1165del	ENSP00000446685.1:n.1143-1166_1143-1165del
ENST00000550253.1:c.927_928del	ENSP00000450052.1:p.Met310GlyfsTer3
ENST00000552516.5:c.1146_1147del	ENSP00000447297.1:p.Met383GlyfsTer3
NM_001130916.1:c.903_904del	NP_001124388.1:p.Met302GlyfsTer3
NM_001130916.2:c.903_904del	NP_001124388.1:p.Met302GlyfsTer3
NM_001306210.1:c.1146_1147del	NP_001293139.1:p.Met383GlyfsTer3
NM_004612.2:c.1134_1135del	NP_004603.1:p.Met379GlyfsTer3
NM_004612.3:c.1134_1135del	NP_004603.1:p.Met379GlyfsTer3
XM_011518948.1:c.939_940del	XP_011517250.1:p.Met314GlyfsTer3
XM_011518949.1:c.927_928del	XP_011517251.1:p.Met310GlyfsTer3
XM_011518950.1:c.696_697del	XP_011517252.1:p.Met233GlyfsTer3
XM_011518948.2:c.939_940del	XP_011517250.1:p.Met314GlyfsTer3
XM_011518949.2:c.927_928del	XP_011517251.1:p.Met310GlyfsTer3
XM_011518950.2:c.696_697del	XP_011517252.1:p.Met233GlyfsTer3
XM_017015063.1:c.939_940del	XP_016870552.1:p.Met314GlyfsTer3
XM_024447658.1:c.927_928del	XP_024303426.1:p.Met310GlyfsTer3
NM_004612.4:c.1134_1135del MANE Select	NP_004603.1:p.Met379GlyfsTer3
NM_001130916.3:c.903_904del	NP_001124388.1:p.Met302GlyfsTer3
NM_001306210.2:c.1146_1147del	NP_001293139.1:p.Met383GlyfsTer3