Canonical Allele Identifier: CA2681939485

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117045-T-TGCTGCCGCCGCCGCCGCCCGCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117047_19117048insTGCCGCCGCCGCCGCCCGCGCCGC , CM000669.2:g.19117047_19117048insTGCCGCCGCCGCCGCCCGCGCCGC	GRCh38
NC_000007.13:g.19156670_19156671insTGCCGCCGCCGCCGCCCGCGCCGC , CM000669.1:g.19156670_19156671insTGCCGCCGCCGCCGCCCGCGCCGC	GRCh37
NC_000007.12:g.19123195_19123196insTGCCGCCGCCGCCGCCCGCGCCGC	NCBI36
NG_008114.1:g.5627_5628insGGCGCGGGCGGCGGCGGCGGCAGC
NG_008114.2:g.5627_5628insGGCGCGGGCGGCGGCGGCGGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.276_277insGGCGCGGGCGGCGGCGGCGGCAGC MANE Select	ENSP00000242261.5:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlySer
ENST00000242261.5:c.276_277insGGCGCGGGCGGCGGCGGCGGCAGC	ENSP00000242261.5:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlySer
ENST00000354571.5:c.73_74insGGCGCGGGCGGCGGCGGCGGCAGC
NM_000474.3:c.276_277insGGCGCGGGCGGCGGCGGCGGCAGC	NP_000465.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlySer
XM_011515496.1:c.276_277insGGCGCGGGCGGCGGCGGCGGCAGC	XP_011513798.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlySer
NR_149001.1:n.627_628insGGCGCGGGCGGCGGCGGCGGCAGC
NM_000474.4:c.276_277insGGCGCGGGCGGCGGCGGCGGCAGC MANE Select	NP_000465.1:p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlySer
NR_149001.2:n.591_592insGGCGCGGGCGGCGGCGGCGGCAGC