Canonical Allele Identifier: CA1692250890
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788586051
gnomAD v4: 7-19117042-T-TGCTGCCGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117045_19117053dup , CM000669.2:g.19117045_19117053dup GRCh38
NC_000007.13:g.19156668_19156676dup , CM000669.1:g.19156668_19156676dup GRCh37
NC_000007.12:g.19123193_19123201dup NCBI36
NG_008114.1:g.5622_5630dup
NG_008114.2:g.5622_5630dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.271_279dup MANE Select ENSP00000242261.5:p.Ser93_Ser94insGlyGlySer
ENST00000242261.5:c.271_279dup ENSP00000242261.5:p.Ser93_Ser94insGlyGlySer
ENST00000354571.5:c.68_76dup
NM_000474.3:c.271_279dup NP_000465.1:p.Ser93_Ser94insGlyGlySer
XM_011515496.1:c.271_279dup XP_011513798.1:p.Ser93_Ser94insGlyGlySer
NR_149001.1:n.622_630dup
NM_000474.4:c.271_279dup MANE Select NP_000465.1:p.Ser93_Ser94insGlyGlySer
NR_149001.2:n.586_594dup
Search 100 bp 5'
Search 100 bp 3'