Canonical Allele Identifier: CA2814427703
Gene: TGFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41348182_41348185del , CM000681.2:g.41348182_41348185del GRCh38
NC_000019.9:g.41854087_41854090del , CM000681.1:g.41854087_41854090del GRCh37
NC_000019.8:g.46545927_46545930del NCBI36
NG_013364.1:g.10742_10745del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.516+110_516+113del MANE Select ENSP00000221930.4:n.516+110_516+113del
ENST00000600196.2:c.516+110_516+113del ENSP00000504008.1:n.516+110_516+113del
ENST00000677934.1:c.516+110_516+113del ENSP00000504769.1:n.516+110_516+113del
ENST00000221930.5:c.516+110_516+113del ENSP00000221930.4:n.516+110_516+113del
ENST00000597453.1:n.47+110_47+113del
NM_000660.5:c.516+110_516+113del NP_000651.3:n.516+110_516+113del
XM_011527242.1:c.516+110_516+113del XP_011525544.1:n.516+110_516+113del
NM_000660.6:c.516+110_516+113del NP_000651.3:n.516+110_516+113del
XM_011527242.2:c.516+110_516+113del XP_011525544.1:n.516+110_516+113del
NM_000660.7:c.516+110_516+113del MANE Select NP_000651.3:n.516+110_516+113del