Canonical Allele Identifier: CA2585297487
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353188_41353190del , CM000681.2:g.41353188_41353190del GRCh38
NC_000019.9:g.41859093_41859095del , CM000681.1:g.41859093_41859095del GRCh37
NC_000019.8:g.46550933_46550935del NCBI36
NG_013091.1:g.15984_15986del
NG_013364.1:g.5737_5739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.-146_-144del (TGFB1) MANE Select ENSP00000221930.4:n.-146_-144del
ENST00000221930.5:c.-146_-144del (TGFB1) ENSP00000221930.4:n.-146_-144del
ENST00000539627.5:c.-30+1986_-30+1988del (TMEM91) ENSP00000441900.1:n.-30+1986_-30+1988del
ENST00000604424.1:n.350+1986_350+1988del
NM_000660.5:c.-146_-144del (TGFB1) NP_000651.3:n.-146_-144del
XM_011527242.1:c.-146_-144del (TGFB1) XP_011525544.1:n.-146_-144del
NM_000660.6:c.-146_-144del (TGFB1) NP_000651.3:n.-146_-144del
XM_011527242.2:c.-146_-144del (TGFB1) XP_011525544.1:n.-146_-144del
NM_000660.7:c.-146_-144del (TGFB1) MANE Select NP_000651.3:n.-146_-144del