Canonical Allele Identifier: CA1099032775

Gene: TWIST1

Linked Data

• gnomAD v3: 7-19117042-T-TGCTGCCGCCGCCGCCGCCCGCGCCGCCGCC
• gnomAD v4: 7-19117042-T-TGCTGCCGCCGCCGCCGCCCGCGCCGCCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117045_19117074dup , CM000669.2:g.19117045_19117074dup	GRCh38
NC_000007.13:g.19156668_19156697dup , CM000669.1:g.19156668_19156697dup	GRCh37
NC_000007.12:g.19123193_19123222dup	NCBI36
NG_008114.1:g.5601_5630dup
NG_008114.2:g.5601_5630dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.250_279dup MANE Select	ENSP00000242261.5:p.Ser93_Ser94insGlyGlyGlyAlaGlyGlyGlyGlyGly...
ENST00000242261.5:c.250_279dup	ENSP00000242261.5:p.Ser93_Ser94insGlyGlyGlyAlaGlyGlyGlyGlyGly...
ENST00000354571.5:c.47_76dup
NM_000474.3:c.250_279dup	NP_000465.1:p.Ser93_Ser94insGlyGlyGlyAlaGlyGlyGlyGlyGlySer
XM_011515496.1:c.250_279dup	XP_011513798.1:p.Ser93_Ser94insGlyGlyGlyAlaGlyGlyGlyGlyGlySer...
NR_149001.1:n.601_630dup
NM_000474.4:c.250_279dup MANE Select	NP_000465.1:p.Ser93_Ser94insGlyGlyGlyAlaGlyGlyGlyGlyGlySer
NR_149001.2:n.565_594dup