Canonical Allele Identifier: CA1692250354
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040207
ClinVar RCV Id: RCV001343809
dbSNP Id: rs1788579060
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116839del , CM000669.2:g.19116839del GRCh38
NC_000007.13:g.19156462del , CM000669.1:g.19156462del GRCh37
NC_000007.12:g.19122987del NCBI36
NG_008114.1:g.5835del
NG_008114.2:g.5835del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.484del MANE Select ENSP00000242261.5:p.Val162SerfsTer?
ENST00000242261.5:c.484del ENSP00000242261.5:p.Val162SerfsTer?
ENST00000354571.5:c.281del
ENST00000443687.5:c.87del
NM_000474.3:c.484del NP_000465.1:p.Val162SerfsTer?
XM_011515496.1:c.484del XP_011513798.1:p.Val162SerfsTer?
NR_149001.1:n.835del
NM_000474.4:c.484del MANE Select NP_000465.1:p.Val162SerfsTer?
NR_149001.2:n.799del
Search 100 bp 5'
Search 100 bp 3'