Canonical Allele Identifier: CA1099032804

Gene: TWIST1

Linked Data

• dbSNP Id: rs544465774
• gnomAD v3: 7-19117045-T-TGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCC
• gnomAD v4: 7-19117045-T-TGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117078_19117079insGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCC , CM000669.2:g.19117078_19117079insGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCC	GRCh38
NC_000007.13:g.19156701_19156702insGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCC , CM000669.1:g.19156701_19156702insGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCC	GRCh37
NC_000007.12:g.19123226_19123227insGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCC	NCBI36
NG_008114.1:g.5627_5628insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC
NG_008114.2:g.5627_5628insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.276_277insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC MANE Select	ENSP00000242261.5:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlyGlyAla...
ENST00000242261.5:c.276_277insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC	ENSP00000242261.5:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlyGlyAla...
ENST00000354571.5:c.73_74insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC
NM_000474.3:c.276_277insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC	NP_000465.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlyGlyAlaGlyGly...
XM_011515496.1:c.276_277insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC	XP_011513798.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlyGlyAlaGly...
NR_149001.1:n.627_628insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC
NM_000474.4:c.276_277insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC MANE Select	NP_000465.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlyGlyAlaGlyGly...
NR_149001.2:n.591_592insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC