Canonical Allele Identifier: CA2681939423

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117039-T-TGCTGCTGCCGCCGCCGCCGCCCGCGCCGCCGCCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117042_19117077dup , CM000669.2:g.19117042_19117077dup	GRCh38
NC_000007.13:g.19156665_19156700dup , CM000669.1:g.19156665_19156700dup	GRCh37
NC_000007.12:g.19123190_19123225dup	NCBI36
NG_008114.1:g.5598_5633dup
NG_008114.2:g.5598_5633dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.247_282dup MANE Select	ENSP00000242261.5:p.Ser94_Ser95insGlyGlyGlyGlyAlaGlyGlyGlyGly...
ENST00000242261.5:c.247_282dup	ENSP00000242261.5:p.Ser94_Ser95insGlyGlyGlyGlyAlaGlyGlyGlyGly...
ENST00000354571.5:c.44_79dup
NM_000474.3:c.247_282dup	NP_000465.1:p.Ser94_Ser95insGlyGlyGlyGlyAlaGlyGlyGlyGlyGlySer...
XM_011515496.1:c.247_282dup	XP_011513798.1:p.Ser94_Ser95insGlyGlyGlyGlyAlaGlyGlyGlyGlyGly...
NR_149001.1:n.598_633dup
NM_000474.4:c.247_282dup MANE Select	NP_000465.1:p.Ser94_Ser95insGlyGlyGlyGlyAlaGlyGlyGlyGlyGlySer...
NR_149001.2:n.562_597dup