Canonical Allele Identifier: CA2695207471
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116885dup , CM000669.2:g.19116885dup GRCh38
NC_000007.13:g.19156508dup , CM000669.1:g.19156508dup GRCh37
NC_000007.12:g.19123033dup NCBI36
NG_008114.1:g.5789dup
NG_008114.2:g.5789dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.438dup MANE Select ENSP00000242261.5:p.Gln147SerfsTer?
ENST00000242261.5:c.438dup ENSP00000242261.5:p.Gln147SerfsTer?
ENST00000354571.5:c.235dup
ENST00000443687.5:c.41dup
NM_000474.3:c.438dup NP_000465.1:p.Gln147SerfsTer?
XM_011515496.1:c.438dup XP_011513798.1:p.Gln147SerfsTer?
NR_149001.1:n.789dup
NM_000474.4:c.438dup MANE Select NP_000465.1:p.Gln147SerfsTer?
NR_149001.2:n.753dup