Canonical Allele Identifier: CA2681939417
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117028-CCCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117036_19117038del , CM000669.2:g.19117036_19117038del GRCh38
NC_000007.13:g.19156659_19156661del , CM000669.1:g.19156659_19156661del GRCh37
NC_000007.12:g.19123184_19123186del NCBI36
NG_008114.1:g.5642_5644del
NG_008114.2:g.5642_5644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.291_293del MANE Select ENSP00000242261.5:p.Gly98del
ENST00000242261.5:c.291_293del ENSP00000242261.5:p.Gly98del
ENST00000354571.5:c.88_90del
NM_000474.3:c.291_293del NP_000465.1:p.Gly98del
XM_011515496.1:c.291_293del XP_011513798.1:p.Gly98del
NR_149001.1:n.642_644del
NM_000474.4:c.291_293del MANE Select NP_000465.1:p.Gly98del
NR_149001.2:n.606_608del
Search 100 bp 5'
Search 100 bp 3'