Canonical Allele Identifier: CA4174514
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432962
ClinVar RCV Id: RCV000498484 RCV001851387
dbSNP Id: rs772470139
ExAC: 7:19156651 CCCGCCGCCGCTGCTGCTG / C
gnomAD v2: 7-19156651-CCCGCCGCCGCTGCTGCTG-C
gnomAD v3: 7-19117028-CCCGCCGCCGCTGCTGCTG-C
gnomAD v4: 7-19117028-CCCGCCGCCGCTGCTGCTG-C
MyVariant Identifiers: chr7:g.19156655_19156672del (hg19) chr7:g.19156652_19156669del (hg19) chr7:g.19117032_19117049del (hg38) chr7:g.19117029_19117046del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117039_19117056del , CM000669.2:g.19117039_19117056del GRCh38
NC_000007.13:g.19156662_19156679del , CM000669.1:g.19156662_19156679del GRCh37
NC_000007.12:g.19123187_19123204del NCBI36
NG_008114.1:g.5627_5644del
NG_008114.2:g.5627_5644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.276_293del MANE Select ENSP00000242261.5:p.Ser93_Gly98del
ENST00000242261.5:c.276_293del ENSP00000242261.5:p.Ser93_Gly98del
ENST00000354571.5:c.73_90del
NM_000474.3:c.276_293del NP_000465.1:p.Ser93_Gly98del
XM_011515496.1:c.276_293del XP_011513798.1:p.Ser93_Gly98del
NR_149001.1:n.627_644del
NM_000474.4:c.276_293del MANE Select NP_000465.1:p.Ser93_Gly98del
NR_149001.2:n.591_608del
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