Canonical Allele Identifier: CA2585296374
Gene: TGFB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342124_41342125dup , CM000681.2:g.41342124_41342125dup GRCh38
NC_000019.9:g.41848029_41848030dup , CM000681.1:g.41848029_41848030dup GRCh37
NC_000019.8:g.46539869_46539870dup NCBI36
NG_013364.1:g.16810_16811dup

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.712+53_712+54dup MANE Select ENSP00000221930.4:n.712+53_712+54dup
ENST00000600196.2:c.712+53_712+54dup ENSP00000504008.1:n.712+53_712+54dup
ENST00000677934.1:c.634+2630_634+2631dup ENSP00000504769.1:n.634+2630_634+2631dup
ENST00000221930.5:c.712+53_712+54dup ENSP00000221930.4:n.712+53_712+54dup
ENST00000597453.1:n.296_297dup
ENST00000600196.1:n.172+53_172+54dup
NM_000660.5:c.712+53_712+54dup NP_000651.3:n.712+53_712+54dup
XM_011527242.1:c.712+53_712+54dup XP_011525544.1:n.712+53_712+54dup
NM_000660.6:c.712+53_712+54dup NP_000651.3:n.712+53_712+54dup
XM_011527242.2:c.712+53_712+54dup XP_011525544.1:n.712+53_712+54dup
NM_000660.7:c.712+53_712+54dup MANE Select NP_000651.3:n.712+53_712+54dup