Canonical Allele Identifier: CA2573142037
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1679672
ClinVar RCV Id: RCV002227696
dbSNP Id: rs2115396502
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116804del , CM000669.2:g.19116804del GRCh38
NC_000007.13:g.19156427del , CM000669.1:g.19156427del GRCh37
NC_000007.12:g.19122952del NCBI36
NG_008114.1:g.5869del
NG_008114.2:g.5869del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.518del MANE Select ENSP00000242261.5:p.Ala173GlufsTer?
ENST00000242261.5:c.518del ENSP00000242261.5:p.Ala173GlufsTer?
ENST00000354571.5:c.315del
ENST00000443687.5:c.121del
NM_000474.3:c.518del NP_000465.1:p.Ala173GlufsTer?
XM_011515496.1:c.518del XP_011513798.1:p.Ala173GlufsTer?
NR_149001.1:n.869del
NM_000474.4:c.518del MANE Select NP_000465.1:p.Ala173GlufsTer?
NR_149001.2:n.833del
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