Canonical Allele Identifier: CA4174521

Gene: TWIST1

Linked Data

• dbSNP Id: rs759696143
• ExAC: 7:19156662 TGCTGCTGCCGCCGCCGCC / T
• gnomAD v2: 7-19156662-TGCTGCTGCCGCCGCCGCC-T
• gnomAD v3: 7-19117039-TGCTGCTGCCGCCGCCGCC-T
• gnomAD v4: 7-19117039-TGCTGCTGCCGCCGCCGCC-T
• MyVariant Identifiers: chr7:g.19156663_19156680del (hg19) ; chr7:g.19156665_19156689delinsCCGCGCC (hg19) ; chr7:g.19117040_19117057del (hg38) ; chr7:g.19117042_19117066delinsCCGCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117042_19117059del , CM000669.2:g.19117042_19117059del	GRCh38
NC_000007.13:g.19156665_19156682del , CM000669.1:g.19156665_19156682del	GRCh37
NC_000007.12:g.19123190_19123207del	NCBI36
NG_008114.1:g.5616_5633del
NG_008114.2:g.5616_5633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.265_282del MANE Select	ENSP00000242261.5:p.Gly89_Ser94del
ENST00000242261.5:c.265_282del	ENSP00000242261.5:p.Gly89_Ser94del
ENST00000354571.5:c.62_79del
NM_000474.3:c.265_282del	NP_000465.1:p.Gly89_Ser94del
XM_011515496.1:c.265_282del	XP_011513798.1:p.Gly89_Ser94del
NR_149001.1:n.616_633del
NM_000474.4:c.265_282del MANE Select	NP_000465.1:p.Gly89_Ser94del
NR_149001.2:n.580_597del