Canonical Allele Identifier: CA2681939420
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117036-C-CGCTGCTGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117039_19117047dup , CM000669.2:g.19117039_19117047dup GRCh38
NC_000007.13:g.19156662_19156670dup , CM000669.1:g.19156662_19156670dup GRCh37
NC_000007.12:g.19123187_19123195dup NCBI36
NG_008114.1:g.5628_5636dup
NG_008114.2:g.5628_5636dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.277_285dup MANE Select ENSP00000242261.5:p.Ser95_Gly96insSerSerSer
ENST00000242261.5:c.277_285dup ENSP00000242261.5:p.Ser95_Gly96insSerSerSer
ENST00000354571.5:c.74_82dup
NM_000474.3:c.277_285dup NP_000465.1:p.Ser95_Gly96insSerSerSer
XM_011515496.1:c.277_285dup XP_011513798.1:p.Ser95_Gly96insSerSerSer
NR_149001.1:n.628_636dup
NM_000474.4:c.277_285dup MANE Select NP_000465.1:p.Ser95_Gly96insSerSerSer
NR_149001.2:n.592_600dup
Search 100 bp 5'
Search 100 bp 3'