Canonical Allele Identifier: CA2573142039
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1451820
ClinVar RCV Id: RCV002035398
dbSNP Id: rs2115396782
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116983_19116984dup , CM000669.2:g.19116983_19116984dup GRCh38
NC_000007.13:g.19156606_19156607dup , CM000669.1:g.19156606_19156607dup GRCh37
NC_000007.12:g.19123131_19123132dup NCBI36
NG_008114.1:g.5689_5690dup
NG_008114.2:g.5689_5690dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.338_339dup MANE Select ENSP00000242261.5:p.Asn114ProfsTer12
ENST00000242261.5:c.338_339dup ENSP00000242261.5:p.Asn114ProfsTer12
ENST00000354571.5:c.135_136dup
NM_000474.3:c.338_339dup NP_000465.1:p.Asn114ProfsTer12
XM_011515496.1:c.338_339dup XP_011513798.1:p.Asn114ProfsTer12
NR_149001.1:n.689_690dup
NM_000474.4:c.338_339dup MANE Select NP_000465.1:p.Asn114ProfsTer12
NR_149001.2:n.653_654dup
Search 100 bp 5'
Search 100 bp 3'