Canonical Allele Identifier: CA2681939698
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117303-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117305del , CM000669.2:g.19117305del GRCh38
NC_000007.13:g.19156928del , CM000669.1:g.19156928del GRCh37
NC_000007.12:g.19123453del NCBI36
NG_008114.1:g.5369del
NG_008114.2:g.5369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.18del MANE Select ENSP00000242261.5:p.Ser7AlafsTer11
ENST00000242261.5:c.18del ENSP00000242261.5:p.Ser7AlafsTer11
NM_000474.3:c.18del NP_000465.1:p.Ser7AlafsTer11
XM_011515496.1:c.18del XP_011513798.1:p.Ser7AlafsTer11
NR_149001.1:n.369del
NM_000474.4:c.18del MANE Select NP_000465.1:p.Ser7AlafsTer11
NR_149001.2:n.333del
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