Canonical Allele Identifier: CA2499218844
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1075081
ClinVar RCV Id: RCV001388570
dbSNP Id: rs2115397248
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117251_19117270del , CM000669.2:g.19117251_19117270del GRCh38
NC_000007.13:g.19156874_19156893del , CM000669.1:g.19156874_19156893del GRCh37
NC_000007.12:g.19123399_19123418del NCBI36
NG_008114.1:g.5405_5424del
NG_008114.2:g.5405_5424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.54_73del MANE Select ENSP00000242261.5:p.Ser18ArgfsTer?
ENST00000242261.5:c.54_73del ENSP00000242261.5:p.Ser18ArgfsTer?
NM_000474.3:c.54_73del NP_000465.1:p.Ser18ArgfsTer?
XM_011515496.1:c.54_73del XP_011513798.1:p.Ser18ArgfsTer?
NR_149001.1:n.405_424del
NM_000474.4:c.54_73del MANE Select NP_000465.1:p.Ser18ArgfsTer?
NR_149001.2:n.369_388del
Search 100 bp 5'
Search 100 bp 3'