Canonical Allele Identifier: CA2509689226
Gene: TGFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41348284_41348285dup , CM000681.2:g.41348284_41348285dup GRCh38
NC_000019.9:g.41854189_41854190dup , CM000681.1:g.41854189_41854190dup GRCh37
NC_000019.8:g.46546029_46546030dup NCBI36
NG_013364.1:g.10642_10643dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.516+10_516+11dup MANE Select ENSP00000221930.4:n.516+10_516+11dup
ENST00000600196.2:c.516+10_516+11dup ENSP00000504008.1:n.516+10_516+11dup
ENST00000677934.1:c.516+10_516+11dup ENSP00000504769.1:n.516+10_516+11dup
ENST00000221930.5:c.516+10_516+11dup ENSP00000221930.4:n.516+10_516+11dup
ENST00000597453.1:n.47+10_47+11dup
NM_000660.5:c.516+10_516+11dup NP_000651.3:n.516+10_516+11dup
XM_011527242.1:c.516+10_516+11dup XP_011525544.1:n.516+10_516+11dup
NM_000660.6:c.516+10_516+11dup NP_000651.3:n.516+10_516+11dup
XM_011527242.2:c.516+10_516+11dup XP_011525544.1:n.516+10_516+11dup
NM_000660.7:c.516+10_516+11dup MANE Select NP_000651.3:n.516+10_516+11dup