Canonical Allele Identifier: CA2681939424

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117039-T-TGCTGCTGCCGCCGCCGCCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117040_19117060dup , CM000669.2:g.19117040_19117060dup	GRCh38
NC_000007.13:g.19156663_19156683dup , CM000669.1:g.19156663_19156683dup	GRCh37
NC_000007.12:g.19123188_19123208dup	NCBI36
NG_008114.1:g.5613_5633dup
NG_008114.2:g.5613_5633dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.262_282dup MANE Select	ENSP00000242261.5:p.Ser94_Ser95insGlyGlyGlyGlyGlySerSer
ENST00000242261.5:c.262_282dup	ENSP00000242261.5:p.Ser94_Ser95insGlyGlyGlyGlyGlySerSer
ENST00000354571.5:c.59_79dup
NM_000474.3:c.262_282dup	NP_000465.1:p.Ser94_Ser95insGlyGlyGlyGlyGlySerSer
XM_011515496.1:c.262_282dup	XP_011513798.1:p.Ser94_Ser95insGlyGlyGlyGlyGlySerSer
NR_149001.1:n.613_633dup
NM_000474.4:c.262_282dup MANE Select	NP_000465.1:p.Ser94_Ser95insGlyGlyGlyGlyGlySerSer
NR_149001.2:n.577_597dup