Canonical Allele Identifier: CA2695207479
Gene: TWIST1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116968del , CM000669.2:g.19116968del GRCh38
NC_000007.13:g.19156591del , CM000669.1:g.19156591del GRCh37
NC_000007.12:g.19123116del NCBI36
NG_008114.1:g.5706del
NG_008114.2:g.5706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.355del MANE Select ENSP00000242261.5:p.Gln119SerfsTer6
ENST00000242261.5:c.355del ENSP00000242261.5:p.Gln119SerfsTer6
ENST00000354571.5:c.152del
NM_000474.3:c.355del NP_000465.1:p.Gln119SerfsTer6
XM_011515496.1:c.355del XP_011513798.1:p.Gln119SerfsTer6
NR_149001.1:n.706del
NM_000474.4:c.355del MANE Select NP_000465.1:p.Gln119SerfsTer6
NR_149001.2:n.670del
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