Canonical Allele Identifier: CA155466615
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2937073
ClinVar RCV Id: RCV003791263
dbSNP Id: rs1018653595
MyVariant Identifiers: chr7:g.19156754_19156755insCGC (hg19) chr7:g.19117131_19117132insCGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117136_19117138dup , CM000669.2:g.19117136_19117138dup GRCh38
NC_000007.13:g.19156759_19156761dup , CM000669.1:g.19156759_19156761dup GRCh37
NC_000007.12:g.19123284_19123286dup NCBI36
NG_008114.1:g.5539_5541dup
NG_008114.2:g.5539_5541dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.188_190dup MANE Select ENSP00000242261.5:p.Gly63_Asp64insGly
ENST00000242261.5:c.188_190dup ENSP00000242261.5:p.Gly63_Asp64insGly
NM_000474.3:c.188_190dup NP_000465.1:p.Gly63_Asp64insGly
XM_011515496.1:c.188_190dup XP_011513798.1:p.Gly63_Asp64insGly
NR_149001.1:n.539_541dup
NM_000474.4:c.188_190dup MANE Select NP_000465.1:p.Gly63_Asp64insGly
NR_149001.2:n.503_505dup
Search 100 bp 5'
Search 100 bp 3'