Canonical Allele Identifier: CA2695207492
Gene: TWIST1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117122_19117132dup , CM000669.2:g.19117122_19117132dup GRCh38
NC_000007.13:g.19156745_19156755dup , CM000669.1:g.19156745_19156755dup GRCh37
NC_000007.12:g.19123270_19123280dup NCBI36
NG_008114.1:g.5541_5551dup
NG_008114.2:g.5541_5551dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.190_200dup MANE Select ENSP00000242261.5:p.Ser68ThrfsTer?
ENST00000242261.5:c.190_200dup ENSP00000242261.5:p.Ser68ThrfsTer?
NM_000474.3:c.190_200dup NP_000465.1:p.Ser68ThrfsTer?
XM_011515496.1:c.190_200dup XP_011513798.1:p.Ser68ThrfsTer?
NR_149001.1:n.541_551dup
NM_000474.4:c.190_200dup MANE Select NP_000465.1:p.Ser68ThrfsTer?
NR_149001.2:n.505_515dup
Search 100 bp 5'
Search 100 bp 3'