Canonical Allele Identifier: CA1692250874
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117039_19117066delinsTGCTGCTGCCGCCGCCGCCGCCCGCGCC , CM000669.2:g.19117039_19117066delinsTGCTGCTGCCGCCGCCGCCGCCCGCGCC GRCh38
NC_000007.13:g.19156662_19156689delinsTGCTGCTGCCGCCGCCGCCGCCCGCGCC , CM000669.1:g.19156662_19156689delinsTGCTGCTGCCGCCGCCGCCGCCCGCGCC GRCh37
NC_000007.12:g.19123187_19123214delinsTGCTGCTGCCGCCGCCGCCGCCCGCGCC NCBI36
NG_008114.1:g.5607_5634delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA
NG_008114.2:g.5607_5634delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.256_283delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA MANE Select ENSP00000242261.5:p.Gly86=
ENST00000242261.5:c.256_283delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA ENSP00000242261.5:p.Gly86=
ENST00000354571.5:c.53_80delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA
NM_000474.3:c.256_283delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA NP_000465.1:p.Gly86=
XM_011515496.1:c.256_283delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA XP_011513798.1:p.Gly86=
NR_149001.1:n.607_634delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA
NM_000474.4:c.256_283delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA MANE Select NP_000465.1:p.Gly86=
NR_149001.2:n.571_598delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA