Canonical Allele Identifier: CA573294069
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543080
ClinVar RCV Id: RCV001523571 RCV002477452
dbSNP Id: rs760471055
gnomAD v2: 7-19156670-C-CCGCCGCCGCCGCCCG
gnomAD v3: 7-19117047-C-CCGCCGCCGCCGCCCG
gnomAD v4: 7-19117047-C-CCGCCGCCGCCGCCCG
MyVariant Identifiers: chr7:g.19156671_19156685dup (hg19) chr7:g.19156685_19156686insCGCCGCCGCCGCCCG (hg19) chr7:g.19156670_19156671insCGCCGCCGCCGCCCG (hg19) chr7:g.19117048_19117062dup (hg38) chr7:g.19117062_19117063insCGCCGCCGCCGCCCG (hg38) chr7:g.19117047_19117048insCGCCGCCGCCGCCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117061_19117075dup , CM000669.2:g.19117061_19117075dup GRCh38
NC_000007.13:g.19156684_19156698dup , CM000669.1:g.19156684_19156698dup GRCh37
NC_000007.12:g.19123209_19123223dup NCBI36
NG_008114.1:g.5611_5625dup
NG_008114.2:g.5611_5625dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.260_274dup MANE Select ENSP00000242261.5:p.Gly91_Gly92insAlaGlyGlyGlyGly
ENST00000242261.5:c.260_274dup ENSP00000242261.5:p.Gly91_Gly92insAlaGlyGlyGlyGly
ENST00000354571.5:c.57_71dup
NM_000474.3:c.260_274dup NP_000465.1:p.Gly91_Gly92insAlaGlyGlyGlyGly
XM_011515496.1:c.260_274dup XP_011513798.1:p.Gly91_Gly92insAlaGlyGlyGlyGly
NR_149001.1:n.611_625dup
NM_000474.4:c.260_274dup MANE Select NP_000465.1:p.Gly91_Gly92insAlaGlyGlyGlyGly
NR_149001.2:n.575_589dup
Search 100 bp 5'
Search 100 bp 3'