Canonical Allele Identifier: CA1692250896
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117045_19117069delinsTGCCGCCGCCGCCGCCCGCGCCGCC , CM000669.2:g.19117045_19117069delinsTGCCGCCGCCGCCGCCCGCGCCGCC GRCh38
NC_000007.13:g.19156668_19156692delinsTGCCGCCGCCGCCGCCCGCGCCGCC , CM000669.1:g.19156668_19156692delinsTGCCGCCGCCGCCGCCCGCGCCGCC GRCh37
NC_000007.12:g.19123193_19123217delinsTGCCGCCGCCGCCGCCCGCGCCGCC NCBI36
NG_008114.1:g.5604_5628delinsGGCGGCGCGGGCGGCGGCGGCGGCA
NG_008114.2:g.5604_5628delinsGGCGGCGCGGGCGGCGGCGGCGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.253_277delinsGGCGGCGCGGGCGGCGGCGGCGGCA MANE Select ENSP00000242261.5:p.Gly85=
ENST00000242261.5:c.253_277delinsGGCGGCGCGGGCGGCGGCGGCGGCA ENSP00000242261.5:p.Gly85=
ENST00000354571.5:c.50_74delinsGGCGGCGCGGGCGGCGGCGGCGGCA
NM_000474.3:c.253_277delinsGGCGGCGCGGGCGGCGGCGGCGGCA NP_000465.1:p.Gly85=
XM_011515496.1:c.253_277delinsGGCGGCGCGGGCGGCGGCGGCGGCA XP_011513798.1:p.Gly85=
NR_149001.1:n.604_628delinsGGCGGCGCGGGCGGCGGCGGCGGCA
NM_000474.4:c.253_277delinsGGCGGCGCGGGCGGCGGCGGCGGCA MANE Select NP_000465.1:p.Gly85=
NR_149001.2:n.568_592delinsGGCGGCGCGGGCGGCGGCGGCGGCA