Canonical Allele Identifier: CA325034
Community Standard Title: NM_004612.4(TGFBR1):c.575-9dup
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137850dup , CM000671.2:g.99137850dup GRCh38
NC_000009.11:g.101900132dup , CM000671.1:g.101900132dup GRCh37
NC_000009.10:g.100939953dup NCBI36
NG_007461.1:g.37721dup

Transcript Alleles

HGVS Amino-acid Change
NM_004612.4:c.575-9dup MANE Select NP_004603.1:n.575-9dup
ENST00000374994.9:c.575-9dup MANE Select ENSP00000364133.4:n.575-9dup
NM_001130916.1:c.344-9dup NP_001124388.1:n.344-9dup
NM_001130916.2:c.344-9dup NP_001124388.1:n.344-9dup
NM_001130916.3:c.344-9dup NP_001124388.1:n.344-9dup
NM_001306210.1:c.587-9dup NP_001293139.1:n.587-9dup
NM_001306210.2:c.587-9dup NP_001293139.1:n.587-9dup
NM_004612.2:c.575-9dup NP_004603.1:n.575-9dup
NM_004612.3:c.575-9dup NP_004603.1:n.575-9dup
ENST00000374990.6:c.344-9dup ENSP00000364129.2:n.344-9dup
ENST00000374994.8:c.575-9dup ENSP00000364133.4:n.575-9dup
ENST00000547314.6:c.368-9dup ENSP00000449934.2:n.368-9dup
ENST00000548365.6:c.380-4686dup ENSP00000448518.2:n.380-4686dup
ENST00000549021.5:c.137-9dup ENSP00000449028.1:n.137-9dup
ENST00000549021.6:c.137-9dup ENSP00000449028.2:n.137-9dup
ENST00000549766.5:c.587-9dup ENSP00000446685.1:n.587-9dup
ENST00000550253.1:c.368-9dup ENSP00000450052.1:n.368-9dup
ENST00000552516.5:c.587-9dup ENSP00000447297.1:n.587-9dup
ENST00000552573.7:c.380-9dup ENSP00000447182.3:n.380-9dup
ENST00000698941.1:c.380-9dup ENSP00000514048.1:n.380-9dup
ENST00000698942.1:c.*371-9dup ENSP00000514049.1:n.*371-9dup
XM_011518948.1:c.380-9dup XP_011517250.1:n.380-9dup
XM_011518948.2:c.380-9dup XP_011517250.1:n.380-9dup
XM_011518949.1:c.368-9dup XP_011517251.1:n.368-9dup
XM_011518949.2:c.368-9dup XP_011517251.1:n.368-9dup
XM_011518950.1:c.137-9dup XP_011517252.1:n.137-9dup
XM_011518950.2:c.137-9dup XP_011517252.1:n.137-9dup
XM_017015063.1:c.380-9dup XP_016870552.1:n.380-9dup
XM_024447658.1:c.368-9dup XP_024303426.1:n.368-9dup