Canonical Allele Identifier: CA2695207499
Gene: TWIST1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117240_19117241delinsAG , CM000669.2:g.19117240_19117241delinsAG GRCh38
NC_000007.13:g.19156863_19156864delinsAG , CM000669.1:g.19156863_19156864delinsAG GRCh37
NC_000007.12:g.19123388_19123389delinsAG NCBI36
NG_008114.1:g.5432_5433delinsCT
NG_008114.2:g.5432_5433delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.81_82delinsCT MANE Select ENSP00000242261.5:p.Gln27HisfsTer2
ENST00000242261.5:c.81_82delinsCT ENSP00000242261.5:p.Gln27HisfsTer2
NM_000474.3:c.81_82delinsCT NP_000465.1:p.Gln27HisfsTer2
XM_011515496.1:c.81_82delinsCT XP_011513798.1:p.Gln27HisfsTer2
NR_149001.1:n.432_433delinsCT
NM_000474.4:c.81_82delinsCT MANE Select NP_000465.1:p.Gln27HisfsTer2
NR_149001.2:n.396_397delinsCT
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