Canonical Allele Identifier: CA2681939415
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs2115396881
gnomAD v4: 7-19117028-CCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCGCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117039_19117074del , CM000669.2:g.19117039_19117074del GRCh38
NC_000007.13:g.19156662_19156697del , CM000669.1:g.19156662_19156697del GRCh37
NC_000007.12:g.19123187_19123222del NCBI36
NG_008114.1:g.5609_5644del
NG_008114.2:g.5609_5644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.258_293del MANE Select ENSP00000242261.5:p.Ala87_Gly98del
ENST00000242261.5:c.258_293del ENSP00000242261.5:p.Ala87_Gly98del
ENST00000354571.5:c.55_90del
NM_000474.3:c.258_293del NP_000465.1:p.Ala87_Gly98del
XM_011515496.1:c.258_293del XP_011513798.1:p.Ala87_Gly98del
NR_149001.1:n.609_644del
NM_000474.4:c.258_293del MANE Select NP_000465.1:p.Ala87_Gly98del
NR_149001.2:n.573_608del
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