Canonical Allele Identifier: CA1692250873
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117039_19117057delinsTGCTGCTGCCGCCGCCGCC , CM000669.2:g.19117039_19117057delinsTGCTGCTGCCGCCGCCGCC GRCh38
NC_000007.13:g.19156662_19156680delinsTGCTGCTGCCGCCGCCGCC , CM000669.1:g.19156662_19156680delinsTGCTGCTGCCGCCGCCGCC GRCh37
NC_000007.12:g.19123187_19123205delinsTGCTGCTGCCGCCGCCGCC NCBI36
NG_008114.1:g.5616_5634delinsGGCGGCGGCGGCAGCAGCA
NG_008114.2:g.5616_5634delinsGGCGGCGGCGGCAGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.265_283delinsGGCGGCGGCGGCAGCAGCA MANE Select ENSP00000242261.5:p.Gly89=
ENST00000242261.5:c.265_283delinsGGCGGCGGCGGCAGCAGCA ENSP00000242261.5:p.Gly89=
ENST00000354571.5:c.62_80delinsGGCGGCGGCGGCAGCAGCA
NM_000474.3:c.265_283delinsGGCGGCGGCGGCAGCAGCA NP_000465.1:p.Gly89=
XM_011515496.1:c.265_283delinsGGCGGCGGCGGCAGCAGCA XP_011513798.1:p.Gly89=
NR_149001.1:n.616_634delinsGGCGGCGGCGGCAGCAGCA
NM_000474.4:c.265_283delinsGGCGGCGGCGGCAGCAGCA MANE Select NP_000465.1:p.Gly89=
NR_149001.2:n.580_598delinsGGCGGCGGCGGCAGCAGCA