Canonical Allele Identifier: CA2681939690
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117208-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117210del , CM000669.2:g.19117210del GRCh38
NC_000007.13:g.19156833del , CM000669.1:g.19156833del GRCh37
NC_000007.12:g.19123358del NCBI36
NG_008114.1:g.5464del
NG_008114.2:g.5464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.113del MANE Select ENSP00000242261.5:p.Lys38SerfsTer?
ENST00000242261.5:c.113del ENSP00000242261.5:p.Lys38SerfsTer?
NM_000474.3:c.113del NP_000465.1:p.Lys38SerfsTer?
XM_011515496.1:c.113del XP_011513798.1:p.Lys38SerfsTer?
NR_149001.1:n.464del
NM_000474.4:c.113del MANE Select NP_000465.1:p.Lys38SerfsTer?
NR_149001.2:n.428del
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