Canonical Allele Identifier: CA2576793349
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353105_41353110del , CM000681.2:g.41353105_41353110del GRCh38
NC_000019.9:g.41859010_41859015del , CM000681.1:g.41859010_41859015del GRCh37
NC_000019.8:g.46550850_46550855del NCBI36
NG_013091.1:g.16065_16070del
NG_013364.1:g.5818_5823del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.-65_-60del (TGFB1) MANE Select ENSP00000221930.4:n.-65_-60del
ENST00000221930.5:c.-65_-60del (TGFB1) ENSP00000221930.4:n.-65_-60del
ENST00000539627.5:c.-30+1903_-30+1908del (TMEM91) ENSP00000441900.1:n.-30+1903_-30+1908del
ENST00000604424.1:n.350+1903_350+1908del
NM_000660.5:c.-65_-60del (TGFB1) NP_000651.3:n.-65_-60del
XM_011527242.1:c.-65_-60del (TGFB1) XP_011525544.1:n.-65_-60del
NM_000660.6:c.-65_-60del (TGFB1) NP_000651.3:n.-65_-60del
XM_011527242.2:c.-65_-60del (TGFB1) XP_011525544.1:n.-65_-60del
NM_000660.7:c.-65_-60del (TGFB1) MANE Select NP_000651.3:n.-65_-60del