Canonical Allele Identifier: CA2695207468
Gene: TWIST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116846_19116847dup , CM000669.2:g.19116846_19116847dup GRCh38
NC_000007.13:g.19156469_19156470dup , CM000669.1:g.19156469_19156470dup GRCh37
NC_000007.12:g.19122994_19122995dup NCBI36
NG_008114.1:g.5828_5829dup
NG_008114.2:g.5828_5829dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.477_478dup MANE Select ENSP00000242261.5:p.Tyr160SerfsTer?
ENST00000242261.5:c.477_478dup ENSP00000242261.5:p.Tyr160SerfsTer?
ENST00000354571.5:c.274_275dup
ENST00000443687.5:c.80_81dup
NM_000474.3:c.477_478dup NP_000465.1:p.Tyr160SerfsTer?
XM_011515496.1:c.477_478dup XP_011513798.1:p.Tyr160SerfsTer?
NR_149001.1:n.828_829dup
NM_000474.4:c.477_478dup MANE Select NP_000465.1:p.Tyr160SerfsTer?
NR_149001.2:n.792_793dup