Canonical Allele Identifier: CA915944887
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 817160
ClinVar RCV Id: RCV001008266
dbSNP Id: rs1585617794
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117226del , CM000669.2:g.19117226del GRCh38
NC_000007.13:g.19156849del , CM000669.1:g.19156849del GRCh37
NC_000007.12:g.19123374del NCBI36
NG_008114.1:g.5447del
NG_008114.2:g.5447del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.96del MANE Select ENSP00000242261.5:p.Lys33SerfsTer?
ENST00000242261.5:c.96del ENSP00000242261.5:p.Lys33SerfsTer?
NM_000474.3:c.96del NP_000465.1:p.Lys33SerfsTer?
XM_011515496.1:c.96del XP_011513798.1:p.Lys33SerfsTer?
NR_149001.1:n.447del
NM_000474.4:c.96del MANE Select NP_000465.1:p.Lys33SerfsTer?
NR_149001.2:n.411del
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