Canonical Allele Identifier: CA1692251621
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117412_19117439delinsCGGCCCGGGCGATGCGGCCCGCGGAGGA , CM000669.2:g.19117412_19117439delinsCGGCCCGGGCGATGCGGCCCGCGGAGGA GRCh38
NC_000007.13:g.19157035_19157062delinsCGGCCCGGGCGATGCGGCCCGCGGAGGA , CM000669.1:g.19157035_19157062delinsCGGCCCGGGCGATGCGGCCCGCGGAGGA GRCh37
NC_000007.12:g.19123560_19123587delinsCGGCCCGGGCGATGCGGCCCGCGGAGGA NCBI36
NG_008114.1:g.5234_5261delinsTCCTCCGCGGGCCGCATCGCCCGGGCCG
NG_008114.2:g.5234_5261delinsTCCTCCGCGGGCCGCATCGCCCGGGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-118_-91delinsTCCTCCGCGGGCCGCATCGCCCGGGCCG MANE Select ENSP00000242261.5:n.-118_-91delinsTCCTCCGCGGGCCGCATCGCCCGGGCC...
ENST00000242261.5:c.-118_-91delinsTCCTCCGCGGGCCGCATCGCCCGGGCCG ENSP00000242261.5:n.-118_-91delinsTCCTCCGCGGGCCGCATCGCCCGGGCC...
NM_000474.3:c.-118_-91delinsTCCTCCGCGGGCCGCATCGCCCGGGCCG NP_000465.1:n.-118_-91delinsTCCTCCGCGGGCCGCATCGCCCGGGCCG
NR_149001.1:n.234_261delinsTCCTCCGCGGGCCGCATCGCCCGGGCCG
NM_000474.4:c.-118_-91delinsTCCTCCGCGGGCCGCATCGCCCGGGCCG MANE Select NP_000465.1:n.-118_-91delinsTCCTCCGCGGGCCGCATCGCCCGGGCCG
NR_149001.2:n.198_225delinsTCCTCCGCGGGCCGCATCGCCCGGGCCG