Canonical Allele Identifier: CA155466600
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2922792
ClinVar RCV Id: RCV003787958
dbSNP Id: rs772470139
gnomAD v3: 7-19117028-C-CCCGCCGCCGCTGCTGCTG
gnomAD v4: 7-19117028-C-CCCGCCGCCGCTGCTGCTG
MyVariant Identifiers: chr7:g.19117028_19117029insCCGCCGCCGCTGCTGCTG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117039_19117056dup , CM000669.2:g.19117039_19117056dup GRCh38
NC_000007.13:g.19156662_19156679dup , CM000669.1:g.19156662_19156679dup GRCh37
NC_000007.12:g.19123187_19123204dup NCBI36
NG_008114.1:g.5627_5644dup
NG_008114.2:g.5627_5644dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.276_293dup MANE Select ENSP00000242261.5:p.Gly98_Ser99insSerSerSerGlyGlyGly
ENST00000242261.5:c.276_293dup ENSP00000242261.5:p.Gly98_Ser99insSerSerSerGlyGlyGly
ENST00000354571.5:c.73_90dup
NM_000474.3:c.276_293dup NP_000465.1:p.Gly98_Ser99insSerSerSerGlyGlyGly
XM_011515496.1:c.276_293dup XP_011513798.1:p.Gly98_Ser99insSerSerSerGlyGlyGly
NR_149001.1:n.627_644dup
NM_000474.4:c.276_293dup MANE Select NP_000465.1:p.Gly98_Ser99insSerSerSerGlyGlyGly
NR_149001.2:n.591_608dup
Search 100 bp 5'
Search 100 bp 3'