Canonical Allele Identifier: CA2695207485
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117042_19117051dup , CM000669.2:g.19117042_19117051dup GRCh38
NC_000007.13:g.19156665_19156674dup , CM000669.1:g.19156665_19156674dup GRCh37
NC_000007.12:g.19123190_19123199dup NCBI36
NG_008114.1:g.5623_5632dup
NG_008114.2:g.5623_5632dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.272_281dup MANE Select ENSP00000242261.5:p.Ser94ArgfsTer?
ENST00000242261.5:c.272_281dup ENSP00000242261.5:p.Ser94ArgfsTer?
ENST00000354571.5:c.69_78dup
NM_000474.3:c.272_281dup NP_000465.1:p.Ser94ArgfsTer?
XM_011515496.1:c.272_281dup XP_011513798.1:p.Ser94ArgfsTer?
NR_149001.1:n.623_632dup
NM_000474.4:c.272_281dup MANE Select NP_000465.1:p.Ser94ArgfsTer?
NR_149001.2:n.587_596dup