Canonical Allele Identifier: CA658796910
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543077
ClinVar RCV Id: RCV000653735 RCV003442005
dbSNP Id: rs1554442082
MyVariant Identifiers: chr7:g.19156803_19156813del (hg19) chr7:g.19117180_19117190del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117184_19117194del , CM000669.2:g.19117184_19117194del GRCh38
NC_000007.13:g.19156807_19156817del , CM000669.1:g.19156807_19156817del GRCh37
NC_000007.12:g.19123332_19123342del NCBI36
NG_008114.1:g.5483_5493del
NG_008114.2:g.5483_5493del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.132_142del MANE Select ENSP00000242261.5:p.Ser45ArgfsTer?
ENST00000242261.5:c.132_142del ENSP00000242261.5:p.Ser45ArgfsTer?
NM_000474.3:c.132_142del NP_000465.1:p.Ser45ArgfsTer?
XM_011515496.1:c.132_142del XP_011513798.1:p.Ser45ArgfsTer?
NR_149001.1:n.483_493del
NM_000474.4:c.132_142del MANE Select NP_000465.1:p.Ser45ArgfsTer?
NR_149001.2:n.447_457del
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