Canonical Allele Identifier: CA454143792
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1519033
ClinVar RCV Id: RCV002024300
dbSNP Id: rs544465774

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117055_19117078dup , CM000669.2:g.19117055_19117078dup GRCh38
NC_000007.13:g.19156678_19156701dup , CM000669.1:g.19156678_19156701dup GRCh37
NC_000007.12:g.19123203_19123226dup NCBI36
NG_008114.1:g.5604_5627dup
NG_008114.2:g.5604_5627dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.253_276dup MANE Select ENSP00000242261.5:p.Gly92_Ser93insGlyGlyAlaGlyGlyGlyGlyGly
ENST00000242261.5:c.253_276dup ENSP00000242261.5:p.Gly92_Ser93insGlyGlyAlaGlyGlyGlyGlyGly
ENST00000354571.5:c.50_73dup
NM_000474.3:c.253_276dup NP_000465.1:p.Gly92_Ser93insGlyGlyAlaGlyGlyGlyGlyGly
XM_011515496.1:c.253_276dup XP_011513798.1:p.Gly92_Ser93insGlyGlyAlaGlyGlyGlyGlyGly
NR_149001.1:n.604_627dup
NM_000474.4:c.253_276dup MANE Select NP_000465.1:p.Gly92_Ser93insGlyGlyAlaGlyGlyGlyGlyGly
NR_149001.2:n.568_591dup