Canonical Allele Identifier: CA2585296743
Gene: TGFB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41348147_41348148del , CM000681.2:g.41348147_41348148del GRCh38
NC_000019.9:g.41854052_41854053del , CM000681.1:g.41854052_41854053del GRCh37
NC_000019.8:g.46545892_46545893del NCBI36
NG_013364.1:g.10780_10781del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.516+148_516+149del MANE Select ENSP00000221930.4:n.516+148_516+149del
ENST00000600196.2:c.516+148_516+149del ENSP00000504008.1:n.516+148_516+149del
ENST00000677934.1:c.516+148_516+149del ENSP00000504769.1:n.516+148_516+149del
ENST00000221930.5:c.516+148_516+149del ENSP00000221930.4:n.516+148_516+149del
ENST00000597453.1:n.47+148_47+149del
NM_000660.5:c.516+148_516+149del NP_000651.3:n.516+148_516+149del
XM_011527242.1:c.516+148_516+149del XP_011525544.1:n.516+148_516+149del
NM_000660.6:c.516+148_516+149del NP_000651.3:n.516+148_516+149del
XM_011527242.2:c.516+148_516+149del XP_011525544.1:n.516+148_516+149del
NM_000660.7:c.516+148_516+149del MANE Select NP_000651.3:n.516+148_516+149del