Canonical Allele Identifier: CA915944885
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 648741
ClinVar RCV Id: RCV000803541
dbSNP Id: rs1585617402
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117045dup , CM000669.2:g.19117045dup GRCh38
NC_000007.13:g.19156668dup , CM000669.1:g.19156668dup GRCh37
NC_000007.12:g.19123193dup NCBI36
NG_008114.1:g.5628dup
NG_008114.2:g.5628dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.277dup MANE Select ENSP00000242261.5:p.Ser93LysfsTer?
ENST00000242261.5:c.277dup ENSP00000242261.5:p.Ser93LysfsTer?
ENST00000354571.5:c.74dup
NM_000474.3:c.277dup NP_000465.1:p.Ser93LysfsTer?
XM_011515496.1:c.277dup XP_011513798.1:p.Ser93LysfsTer?
NR_149001.1:n.628dup
NM_000474.4:c.277dup MANE Select NP_000465.1:p.Ser93LysfsTer?
NR_149001.2:n.592dup
Search 100 bp 5'
Search 100 bp 3'