Canonical Allele Identifier: CA2690966082

Gene: TGFBR1

Linked Data

• gnomAD v4: 9-99142838-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142838_99142839insT , CM000671.2:g.99142838_99142839insT	GRCh38
NC_000009.11:g.101905120_101905121insT , CM000671.1:g.101905120_101905121insT	GRCh37
NC_000009.10:g.100944941_100944942insT	NCBI36
NG_007461.1:g.42709_42710insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.766+135_766+136insT	ENSP00000449934.2:n.766+135_766+136insT
ENST00000552573.7:c.778+135_778+136insT	ENSP00000447182.3:n.778+135_778+136insT
ENST00000548365.6:c.547+135_547+136insT	ENSP00000448518.2:n.547+135_547+136insT
ENST00000549021.6:c.535+135_535+136insT	ENSP00000449028.2:n.535+135_535+136insT
ENST00000698941.1:c.778+135_778+136insT	ENSP00000514048.1:n.778+135_778+136insT
ENST00000698942.1:c.*769+135_*769+136insT	ENSP00000514049.1:n.*769+135_*769+136insT
ENST00000374994.9:c.973+135_973+136insT MANE Select	ENSP00000364133.4:n.973+135_973+136insT
ENST00000374990.6:c.742+135_742+136insT	ENSP00000364129.2:n.742+135_742+136insT
ENST00000374994.8:c.973+135_973+136insT	ENSP00000364133.4:n.973+135_973+136insT
ENST00000549766.5:c.985+135_985+136insT	ENSP00000446685.1:n.985+135_985+136insT
ENST00000550253.1:c.766+135_766+136insT	ENSP00000450052.1:n.766+135_766+136insT
ENST00000552516.5:c.985+135_985+136insT	ENSP00000447297.1:n.985+135_985+136insT
NM_001130916.1:c.742+135_742+136insT	NP_001124388.1:n.742+135_742+136insT
NM_001130916.2:c.742+135_742+136insT	NP_001124388.1:n.742+135_742+136insT
NM_001306210.1:c.985+135_985+136insT	NP_001293139.1:n.985+135_985+136insT
NM_004612.2:c.973+135_973+136insT	NP_004603.1:n.973+135_973+136insT
NM_004612.3:c.973+135_973+136insT	NP_004603.1:n.973+135_973+136insT
XM_011518948.1:c.778+135_778+136insT	XP_011517250.1:n.778+135_778+136insT
XM_011518949.1:c.766+135_766+136insT	XP_011517251.1:n.766+135_766+136insT
XM_011518950.1:c.535+135_535+136insT	XP_011517252.1:n.535+135_535+136insT
XM_011518948.2:c.778+135_778+136insT	XP_011517250.1:n.778+135_778+136insT
XM_011518949.2:c.766+135_766+136insT	XP_011517251.1:n.766+135_766+136insT
XM_011518950.2:c.535+135_535+136insT	XP_011517252.1:n.535+135_535+136insT
XM_017015063.1:c.778+135_778+136insT	XP_016870552.1:n.778+135_778+136insT
XM_024447658.1:c.766+135_766+136insT	XP_024303426.1:n.766+135_766+136insT
NM_004612.4:c.973+135_973+136insT MANE Select	NP_004603.1:n.973+135_973+136insT
NM_001130916.3:c.742+135_742+136insT	NP_001124388.1:n.742+135_742+136insT
NM_001306210.2:c.985+135_985+136insT	NP_001293139.1:n.985+135_985+136insT