Canonical Allele Identifier: CA1692250882
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117042_19117063delinsTGCTGCCGCCGCCGCCGCCCGC , CM000669.2:g.19117042_19117063delinsTGCTGCCGCCGCCGCCGCCCGC GRCh38
NC_000007.13:g.19156665_19156686delinsTGCTGCCGCCGCCGCCGCCCGC , CM000669.1:g.19156665_19156686delinsTGCTGCCGCCGCCGCCGCCCGC GRCh37
NC_000007.12:g.19123190_19123211delinsTGCTGCCGCCGCCGCCGCCCGC NCBI36
NG_008114.1:g.5610_5631delinsGCGGGCGGCGGCGGCGGCAGCA
NG_008114.2:g.5610_5631delinsGCGGGCGGCGGCGGCGGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.259_280delinsGCGGGCGGCGGCGGCGGCAGCA MANE Select ENSP00000242261.5:p.Ala87=
ENST00000242261.5:c.259_280delinsGCGGGCGGCGGCGGCGGCAGCA ENSP00000242261.5:p.Ala87=
ENST00000354571.5:c.56_77delinsGCGGGCGGCGGCGGCGGCAGCA
NM_000474.3:c.259_280delinsGCGGGCGGCGGCGGCGGCAGCA NP_000465.1:p.Ala87=
XM_011515496.1:c.259_280delinsGCGGGCGGCGGCGGCGGCAGCA XP_011513798.1:p.Ala87=
NR_149001.1:n.610_631delinsGCGGGCGGCGGCGGCGGCAGCA
NM_000474.4:c.259_280delinsGCGGGCGGCGGCGGCGGCAGCA MANE Select NP_000465.1:p.Ala87=
NR_149001.2:n.574_595delinsGCGGGCGGCGGCGGCGGCAGCA