Canonical Allele Identifier: CA454143901
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1286775912
gnomAD v2: 7-19156656-C-CGCCGCTGCTGCT
gnomAD v3: 7-19117033-C-CGCCGCTGCTGCT
gnomAD v4: 7-19117033-C-CGCCGCTGCTGCT
MyVariant Identifiers: chr7:g.19156656_19156657insGCCGCTGCTGCT (hg19) chr7:g.19117033_19117034insGCCGCTGCTGCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117039_19117050dup , CM000669.2:g.19117039_19117050dup GRCh38
NC_000007.13:g.19156662_19156673dup , CM000669.1:g.19156662_19156673dup GRCh37
NC_000007.12:g.19123187_19123198dup NCBI36
NG_008114.1:g.5628_5639dup
NG_008114.2:g.5628_5639dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.277_288dup MANE Select ENSP00000242261.5:p.Gly96_Gly97insSerSerSerGly
ENST00000242261.5:c.277_288dup ENSP00000242261.5:p.Gly96_Gly97insSerSerSerGly
ENST00000354571.5:c.74_85dup
NM_000474.3:c.277_288dup NP_000465.1:p.Gly96_Gly97insSerSerSerGly
XM_011515496.1:c.277_288dup XP_011513798.1:p.Gly96_Gly97insSerSerSerGly
NR_149001.1:n.628_639dup
NM_000474.4:c.277_288dup MANE Select NP_000465.1:p.Gly96_Gly97insSerSerSerGly
NR_149001.2:n.592_603dup
Search 100 bp 5'
Search 100 bp 3'