Canonical Allele Identifier: CA4174518
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs771484889
ExAC: 7:19156659 CGCT / C
gnomAD v4: 7-19117036-CGCT-C
MyVariant Identifiers: chr7:g.19156660_19156662del (hg19) chr7:g.19117037_19117039del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117045_19117047del , CM000669.2:g.19117045_19117047del GRCh38
NC_000007.13:g.19156668_19156670del , CM000669.1:g.19156668_19156670del GRCh37
NC_000007.12:g.19123193_19123195del NCBI36
NG_008114.1:g.5634_5636del
NG_008114.2:g.5634_5636del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.283_285del MANE Select ENSP00000242261.5:p.Ser95del
ENST00000242261.5:c.283_285del ENSP00000242261.5:p.Ser95del
ENST00000354571.5:c.80_82del
NM_000474.3:c.283_285del NP_000465.1:p.Ser95del
XM_011515496.1:c.283_285del XP_011513798.1:p.Ser95del
NR_149001.1:n.634_636del
NM_000474.4:c.283_285del MANE Select NP_000465.1:p.Ser95del
NR_149001.2:n.598_600del
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