Canonical Allele Identifier: CA2681939563
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117065-C-CCGCCGCCGCCGCCGCCCG
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117078_19117079insGCCCGCGCCGCCGCCGCC , CM000669.2:g.19117078_19117079insGCCCGCGCCGCCGCCGCC GRCh38
NC_000007.13:g.19156701_19156702insGCCCGCGCCGCCGCCGCC , CM000669.1:g.19156701_19156702insGCCCGCGCCGCCGCCGCC GRCh37
NC_000007.12:g.19123226_19123227insGCCCGCGCCGCCGCCGCC NCBI36
NG_008114.1:g.5607_5608insCGGGCGGCGGCGGCGGCG
NG_008114.2:g.5607_5608insCGGGCGGCGGCGGCGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.256_257insCGGGCGGCGGCGGCGGCG MANE Select ENSP00000242261.5:p.Gly85_Gly86insAlaGlyGlyGlyGlyGly
ENST00000242261.5:c.256_257insCGGGCGGCGGCGGCGGCG ENSP00000242261.5:p.Gly85_Gly86insAlaGlyGlyGlyGlyGly
ENST00000354571.5:c.53_54insCGGGCGGCGGCGGCGGCG
NM_000474.3:c.256_257insCGGGCGGCGGCGGCGGCG NP_000465.1:p.Gly85_Gly86insAlaGlyGlyGlyGlyGly
XM_011515496.1:c.256_257insCGGGCGGCGGCGGCGGCG XP_011513798.1:p.Gly85_Gly86insAlaGlyGlyGlyGlyGly
NR_149001.1:n.607_608insCGGGCGGCGGCGGCGGCG
NM_000474.4:c.256_257insCGGGCGGCGGCGGCGGCG MANE Select NP_000465.1:p.Gly85_Gly86insAlaGlyGlyGlyGlyGly
NR_149001.2:n.571_572insCGGGCGGCGGCGGCGGCG
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