Canonical Allele Identifier: CA2681939498
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117045-T-TGCCGCCGCCGCCCGCGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117057_19117058insCGCGCCGCCGCCGCCGCC , CM000669.2:g.19117057_19117058insCGCGCCGCCGCCGCCGCC GRCh38
NC_000007.13:g.19156680_19156681insCGCGCCGCCGCCGCCGCC , CM000669.1:g.19156680_19156681insCGCGCCGCCGCCGCCGCC GRCh37
NC_000007.12:g.19123205_19123206insCGCGCCGCCGCCGCCGCC NCBI36
NG_008114.1:g.5627_5628insGGCGCGGGCGGCGGCGGC
NG_008114.2:g.5627_5628insGGCGCGGGCGGCGGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.276_277insGGCGCGGGCGGCGGCGGC MANE Select ENSP00000242261.5:p.Gly92_Ser93insGlyAlaGlyGlyGlyGly
ENST00000242261.5:c.276_277insGGCGCGGGCGGCGGCGGC ENSP00000242261.5:p.Gly92_Ser93insGlyAlaGlyGlyGlyGly
ENST00000354571.5:c.73_74insGGCGCGGGCGGCGGCGGC
NM_000474.3:c.276_277insGGCGCGGGCGGCGGCGGC NP_000465.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGly
XM_011515496.1:c.276_277insGGCGCGGGCGGCGGCGGC XP_011513798.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGly
NR_149001.1:n.627_628insGGCGCGGGCGGCGGCGGC
NM_000474.4:c.276_277insGGCGCGGGCGGCGGCGGC MANE Select NP_000465.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGly
NR_149001.2:n.591_592insGGCGCGGGCGGCGGCGGC
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