Canonical Allele Identifier: CA2576793344
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353098_41353100del , CM000681.2:g.41353098_41353100del GRCh38
NC_000019.9:g.41859003_41859005del , CM000681.1:g.41859003_41859005del GRCh37
NC_000019.8:g.46550843_46550845del NCBI36
NG_013091.1:g.16078_16080del
NG_013364.1:g.5831_5833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.-52_-50del (TGFB1) MANE Select ENSP00000221930.4:n.-52_-50del
ENST00000221930.5:c.-52_-50del (TGFB1) ENSP00000221930.4:n.-52_-50del
ENST00000539627.5:c.-30+1896_-30+1898del (TMEM91) ENSP00000441900.1:n.-30+1896_-30+1898del
ENST00000604424.1:n.350+1896_350+1898del
NM_000660.5:c.-52_-50del (TGFB1) NP_000651.3:n.-52_-50del
XM_011527242.1:c.-52_-50del (TGFB1) XP_011525544.1:n.-52_-50del
NM_000660.6:c.-52_-50del (TGFB1) NP_000651.3:n.-52_-50del
XM_011527242.2:c.-52_-50del (TGFB1) XP_011525544.1:n.-52_-50del
NM_000660.7:c.-52_-50del (TGFB1) MANE Select NP_000651.3:n.-52_-50del