Canonical Allele Identifier: CA2681939419
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117033-C-CGCCGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117036_19117041dup , CM000669.2:g.19117036_19117041dup GRCh38
NC_000007.13:g.19156659_19156664dup , CM000669.1:g.19156659_19156664dup GRCh37
NC_000007.12:g.19123184_19123189dup NCBI36
NG_008114.1:g.5634_5639dup
NG_008114.2:g.5634_5639dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.283_288dup MANE Select ENSP00000242261.5:p.Gly96_Gly97insSerGly
ENST00000242261.5:c.283_288dup ENSP00000242261.5:p.Gly96_Gly97insSerGly
ENST00000354571.5:c.80_85dup
NM_000474.3:c.283_288dup NP_000465.1:p.Gly96_Gly97insSerGly
XM_011515496.1:c.283_288dup XP_011513798.1:p.Gly96_Gly97insSerGly
NR_149001.1:n.634_639dup
NM_000474.4:c.283_288dup MANE Select NP_000465.1:p.Gly96_Gly97insSerGly
NR_149001.2:n.598_603dup
Search 100 bp 5'
Search 100 bp 3'