Canonical Allele Identifier: CA915940498
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1514348
ClinVar RCV Id: RCV002048241
dbSNP Id: rs2115396517
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116813dup , CM000669.2:g.19116813dup GRCh38
NC_000007.13:g.19156436dup , CM000669.1:g.19156436dup GRCh37
NC_000007.12:g.19122961dup NCBI36
NG_008114.1:g.5861dup
NG_008114.2:g.5861dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.510dup MANE Select ENSP00000242261.5:p.Lys171GlnfsTer?
ENST00000242261.5:c.510dup ENSP00000242261.5:p.Lys171GlnfsTer?
ENST00000354571.5:c.307dup
ENST00000443687.5:c.113dup
NM_000474.3:c.510dup NP_000465.1:p.Lys171GlnfsTer?
XM_011515496.1:c.510dup XP_011513798.1:p.Lys171GlnfsTer?
NR_149001.1:n.861dup
NM_000474.4:c.510dup MANE Select NP_000465.1:p.Lys171GlnfsTer?
NR_149001.2:n.825dup
Search 100 bp 5'
Search 100 bp 3'