Canonical Allele Identifier: CA915944886
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 645450
ClinVar RCV Id: RCV000799522
dbSNP Id: rs1585617611
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117126del , CM000669.2:g.19117126del GRCh38
NC_000007.13:g.19156749del , CM000669.1:g.19156749del GRCh37
NC_000007.12:g.19123274del NCBI36
NG_008114.1:g.5548del
NG_008114.2:g.5548del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.197del MANE Select ENSP00000242261.5:p.Pro66ArgfsTer?
ENST00000242261.5:c.197del ENSP00000242261.5:p.Pro66ArgfsTer?
NM_000474.3:c.197del NP_000465.1:p.Pro66ArgfsTer?
XM_011515496.1:c.197del XP_011513798.1:p.Pro66ArgfsTer?
NR_149001.1:n.548del
NM_000474.4:c.197del MANE Select NP_000465.1:p.Pro66ArgfsTer?
NR_149001.2:n.512del
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