Canonical Allele Identifier: CA1692250974
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117057_19117081delinsCGCCCGCGCCGCCGCCGCCGCCACA , CM000669.2:g.19117057_19117081delinsCGCCCGCGCCGCCGCCGCCGCCACA GRCh38
NC_000007.13:g.19156680_19156704delinsCGCCCGCGCCGCCGCCGCCGCCACA , CM000669.1:g.19156680_19156704delinsCGCCCGCGCCGCCGCCGCCGCCACA GRCh37
NC_000007.12:g.19123205_19123229delinsCGCCCGCGCCGCCGCCGCCGCCACA NCBI36
NG_008114.1:g.5592_5616delinsTGTGGCGGCGGCGGCGGCGCGGGCG
NG_008114.2:g.5592_5616delinsTGTGGCGGCGGCGGCGGCGCGGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG MANE Select ENSP00000242261.5:p.Cys81=
ENST00000242261.5:c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG ENSP00000242261.5:p.Cys81=
ENST00000354571.5:c.38_62delinsTGTGGCGGCGGCGGCGGCGCGGGCG
NM_000474.3:c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG NP_000465.1:p.Cys81=
XM_011515496.1:c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG XP_011513798.1:p.Cys81=
NR_149001.1:n.592_616delinsTGTGGCGGCGGCGGCGGCGCGGGCG
NM_000474.4:c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG MANE Select NP_000465.1:p.Cys81=
NR_149001.2:n.556_580delinsTGTGGCGGCGGCGGCGGCGCGGGCG