Canonical Allele Identifier: CA1127255530

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1827977553
• gnomAD v3: 9-99151408-T-TTTTTTTTTTTTTTTTTTG
• gnomAD v4: 9-99151408-T-TTTTTTTTTTTTTTTTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151410_99151411insTTTTTTTTTTTTTTTGTT , CM000671.2:g.99151410_99151411insTTTTTTTTTTTTTTTGTT	GRCh38
NC_000009.11:g.101913692_101913693insTTTTTTTTTTTTTTTGTT , CM000671.1:g.101913692_101913693insTTTTTTTTTTTTTTTGTT	GRCh37
NC_000009.10:g.100953513_100953514insTTTTTTTTTTTTTTTGTT	NCBI36
NG_007461.1:g.51281_51282insTTTTTTTTTTTTTTTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	ENSP00000449934.2:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
ENST00000552573.7:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	ENSP00000447182.3:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
ENST00000374994.9:c.*2105_*2106insTTTTTTTTTTTTTTTGTT MANE Select	ENSP00000364133.4:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
ENST00000374990.6:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	ENSP00000364129.2:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
ENST00000374994.8:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	ENSP00000364133.4:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
ENST00000552516.5:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	ENSP00000447297.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
NM_001130916.1:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	NP_001124388.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
NM_001130916.2:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	NP_001124388.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
NM_001306210.1:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	NP_001293139.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
NM_004612.2:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	NP_004603.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
NM_004612.3:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	NP_004603.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
XM_011518948.1:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	XP_011517250.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
XM_011518949.1:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	XP_011517251.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
XM_011518950.1:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	XP_011517252.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
NM_004612.4:c.*2105_*2106insTTTTTTTTTTTTTTTGTT MANE Select	NP_004603.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
NM_001130916.3:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	NP_001124388.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT
NM_001306210.2:c.*2105_*2106insTTTTTTTTTTTTTTTGTT	NP_001293139.1:n.*2105_*2106insTTTTTTTTTTTTTTTGTT