Canonical Allele Identifier: CA2681939418

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117028-C-CCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117039_19117074dup , CM000669.2:g.19117039_19117074dup	GRCh38
NC_000007.13:g.19156662_19156697dup , CM000669.1:g.19156662_19156697dup	GRCh37
NC_000007.12:g.19123187_19123222dup	NCBI36
NG_008114.1:g.5609_5644dup
NG_008114.2:g.5609_5644dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.258_293dup MANE Select	ENSP00000242261.5:p.Gly98_Ser99insAlaGlyGlyGlyGlyGlySerSerSer...
ENST00000242261.5:c.258_293dup	ENSP00000242261.5:p.Gly98_Ser99insAlaGlyGlyGlyGlyGlySerSerSer...
ENST00000354571.5:c.55_90dup
NM_000474.3:c.258_293dup	NP_000465.1:p.Gly98_Ser99insAlaGlyGlyGlyGlyGlySerSerSerGlyGly...
XM_011515496.1:c.258_293dup	XP_011513798.1:p.Gly98_Ser99insAlaGlyGlyGlyGlyGlySerSerSerGly...
NR_149001.1:n.609_644dup
NM_000474.4:c.258_293dup MANE Select	NP_000465.1:p.Gly98_Ser99insAlaGlyGlyGlyGlyGlySerSerSerGlyGly...
NR_149001.2:n.573_608dup