Canonical Allele Identifier: CA1139655408
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117039delinsCG , CM000669.2:g.19117039delinsCG GRCh38
NC_000007.13:g.19156662delinsCG , CM000669.1:g.19156662delinsCG GRCh37
NC_000007.12:g.19123187delinsCG NCBI36
NG_008114.1:g.5634delinsCG
NG_008114.2:g.5634delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.283delinsCG MANE Select ENSP00000242261.5:p.Ser95ArgfsTer?
ENST00000242261.5:c.283delinsCG ENSP00000242261.5:p.Ser95ArgfsTer?
ENST00000354571.5:c.80delinsCG
NM_000474.3:c.283delinsCG NP_000465.1:p.Ser95ArgfsTer?
XM_011515496.1:c.283delinsCG XP_011513798.1:p.Ser95ArgfsTer?
NR_149001.1:n.634delinsCG
NM_000474.4:c.283delinsCG MANE Select NP_000465.1:p.Ser95ArgfsTer?
NR_149001.2:n.598delinsCG