Canonical Allele Identifier: CA836362819
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1318992028
gnomAD v3: 7-19117169-C-CCCCGCGCCGCCG
gnomAD v4: 7-19117169-C-CCCCGCGCCGCCG
MyVariant Identifiers: chr7:g.19156792_19156793insCCCGCGCCGCCG (hg19) chr7:g.19117169_19117170insCCCGCGCCGCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117177_19117188dup , CM000669.2:g.19117177_19117188dup GRCh38
NC_000007.13:g.19156800_19156811dup , CM000669.1:g.19156800_19156811dup GRCh37
NC_000007.12:g.19123325_19123336dup NCBI36
NG_008114.1:g.5492_5503dup
NG_008114.2:g.5492_5503dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.141_152dup MANE Select ENSP00000242261.5:p.Gly51_Pro52insGlyGlyAlaGly
ENST00000242261.5:c.141_152dup ENSP00000242261.5:p.Gly51_Pro52insGlyGlyAlaGly
NM_000474.3:c.141_152dup NP_000465.1:p.Gly51_Pro52insGlyGlyAlaGly
XM_011515496.1:c.141_152dup XP_011513798.1:p.Gly51_Pro52insGlyGlyAlaGly
NR_149001.1:n.492_503dup
NM_000474.4:c.141_152dup MANE Select NP_000465.1:p.Gly51_Pro52insGlyGlyAlaGly
NR_149001.2:n.456_467dup
Search 100 bp 5'
Search 100 bp 3'