Canonical Allele Identifier: CA2740097310
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2950975
ClinVar RCV Id: RCV003802237
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117293_19117301dup , CM000669.2:g.19117293_19117301dup GRCh38
NC_000007.13:g.19156916_19156924dup , CM000669.1:g.19156916_19156924dup GRCh37
NC_000007.12:g.19123441_19123449dup NCBI36
NG_008114.1:g.5378_5386dup
NG_008114.2:g.5378_5386dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.27_35dup MANE Select ENSP00000242261.5:p.Pro12_Ala13insValSerPro
ENST00000242261.5:c.27_35dup ENSP00000242261.5:p.Pro12_Ala13insValSerPro
NM_000474.3:c.27_35dup NP_000465.1:p.Pro12_Ala13insValSerPro
XM_011515496.1:c.27_35dup XP_011513798.1:p.Pro12_Ala13insValSerPro
NR_149001.1:n.378_386dup
NM_000474.4:c.27_35dup MANE Select NP_000465.1:p.Pro12_Ala13insValSerPro
NR_149001.2:n.342_350dup
Search 100 bp 5'
Search 100 bp 3'