Canonical Allele Identifier: CA2580097326
Community Standard Title: NM_000660.7(TGFB1):c.1156_1157del (p.Ser386LeufsTer?)
Gene: TGFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41331069_41331070del , CM000681.2:g.41331069_41331070del GRCh38
NC_000019.9:g.41836974_41836975del , CM000681.1:g.41836974_41836975del GRCh37
NC_000019.8:g.46528814_46528815del NCBI36
NG_013364.1:g.27858_27859del

Transcript Alleles

HGVS Amino-acid Change
NM_000660.7:c.1156_1157del MANE Select NP_000651.3:p.Ser386LeufsTer?
ENST00000221930.6:c.1156_1157del MANE Select ENSP00000221930.4:p.Ser386LeufsTer?
NM_000660.5:c.1156_1157del NP_000651.3:p.Ser386LeufsTer?
NM_000660.6:c.1156_1157del NP_000651.3:p.Ser386LeufsTer?
ENST00000221930.5:c.1156_1157del ENSP00000221930.4:p.Ser386LeufsTer?
ENST00000598758.5:c.302+1059_302+1060del
ENST00000600196.2:c.1096_1097del ENSP00000504008.1:p.Ser366LeufsTer?
ENST00000677934.1:c.930_931del ENSP00000504769.1:n.930_931del
XM_011527242.1:c.1159_1160del XP_011525544.1:p.Ser387LeufsTer?
XM_011527242.2:c.1159_1160del XP_011525544.1:p.Ser387LeufsTer?