Canonical Allele Identifier: CA155466608
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 772125
ClinVar RCV Id: RCV000951587 RCV001572961 RCV004533650
dbSNP Id: rs754552080
gnomAD v2: 7-19156685-G-GCGC
gnomAD v3: 7-19117062-G-GCGC
gnomAD v4: 7-19117062-G-GCGC
MyVariant Identifiers: chr7:g.19156691_19156692insCGC (hg19) chr7:g.19156688_19156689insCGC (hg19) chr7:g.19156685_19156686insCGC (hg19) chr7:g.19117068_19117069insCGC (hg38) chr7:g.19117065_19117066insCGC (hg38) chr7:g.19117062_19117063insCGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117076_19117078dup , CM000669.2:g.19117076_19117078dup GRCh38
NC_000007.13:g.19156699_19156701dup , CM000669.1:g.19156699_19156701dup GRCh37
NC_000007.12:g.19123224_19123226dup NCBI36
NG_008114.1:g.5608_5610dup
NG_008114.2:g.5608_5610dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.257_259dup MANE Select ENSP00000242261.5:p.Gly86_Ala87insGly
ENST00000242261.5:c.257_259dup ENSP00000242261.5:p.Gly86_Ala87insGly
ENST00000354571.5:c.54_56dup
NM_000474.3:c.257_259dup NP_000465.1:p.Gly86_Ala87insGly
XM_011515496.1:c.257_259dup XP_011513798.1:p.Gly86_Ala87insGly
NR_149001.1:n.608_610dup
NM_000474.4:c.257_259dup MANE Select NP_000465.1:p.Gly86_Ala87insGly
NR_149001.2:n.572_574dup
Search 100 bp 5'
Search 100 bp 3'