Canonical Allele Identifier: CA2681939697
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117286-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117288del , CM000669.2:g.19117288del GRCh38
NC_000007.13:g.19156911del , CM000669.1:g.19156911del GRCh37
NC_000007.12:g.19123436del NCBI36
NG_008114.1:g.5386del
NG_008114.2:g.5386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.35del MANE Select ENSP00000242261.5:p.Pro12ArgfsTer6
ENST00000242261.5:c.35del ENSP00000242261.5:p.Pro12ArgfsTer6
NM_000474.3:c.35del NP_000465.1:p.Pro12ArgfsTer6
XM_011515496.1:c.35del XP_011513798.1:p.Pro12ArgfsTer6
NR_149001.1:n.386del
NM_000474.4:c.35del MANE Select NP_000465.1:p.Pro12ArgfsTer6
NR_149001.2:n.350del
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