Canonical Allele Identifier: CA2585297355
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

gnomAD v4: 19-41353045-GGGGGAGGCGGCGCCCCCCGGCACTGCCGAGAGCGCGAACAGGGCTGGTGTGGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353054_41353106del , CM000681.2:g.41353054_41353106del GRCh38
NC_000019.9:g.41858959_41859011del , CM000681.1:g.41858959_41859011del GRCh37
NC_000019.8:g.46550799_46550851del NCBI36
NG_013091.1:g.16076_16128del
NG_013364.1:g.5829_5881del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.-54_-2del (TGFB1) MANE Select ENSP00000221930.4:n.-54_-2del
ENST00000221930.5:c.-54_-2del (TGFB1) ENSP00000221930.4:n.-54_-2del
ENST00000539627.5:c.-30+1852_-30+1904del (TMEM91) ENSP00000441900.1:n.-30+1852_-30+1904del
ENST00000604424.1:n.350+1852_350+1904del
NM_000660.5:c.-54_-2del (TGFB1) NP_000651.3:n.-54_-2del
XM_011527242.1:c.-54_-2del (TGFB1) XP_011525544.1:n.-54_-2del
NM_000660.6:c.-54_-2del (TGFB1) NP_000651.3:n.-54_-2del
XM_011527242.2:c.-54_-2del (TGFB1) XP_011525544.1:n.-54_-2del
NM_000660.7:c.-54_-2del (TGFB1) MANE Select NP_000651.3:n.-54_-2del
Search 100 bp 5'
Search 100 bp 3'