Canonical Allele Identifier: CA915944883
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637010
ClinVar RCV Id: RCV000788996
dbSNP Id: rs1585617012
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116923_19116924delinsAA , CM000669.2:g.19116923_19116924delinsAA GRCh38
NC_000007.13:g.19156546_19156547delinsAA , CM000669.1:g.19156546_19156547delinsAA GRCh37
NC_000007.12:g.19123071_19123072delinsAA NCBI36
NG_008114.1:g.5749_5750delinsTT
NG_008114.2:g.5749_5750delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.398_399delinsTT MANE Select ENSP00000242261.5:p.Lys133Ile
ENST00000242261.5:c.398_399delinsTT ENSP00000242261.5:p.Lys133Ile
ENST00000354571.5:c.195_196delinsTT
ENST00000443687.5:c.1_2delinsTT
NM_000474.3:c.398_399delinsTT NP_000465.1:p.Lys133Ile
XM_011515496.1:c.398_399delinsTT XP_011513798.1:p.Lys133Ile
NR_149001.1:n.749_750delinsTT
NM_000474.4:c.398_399delinsTT MANE Select NP_000465.1:p.Lys133Ile
NR_149001.2:n.713_714delinsTT
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