Canonical Allele Identifier: CA2580615855
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1351855
ClinVar RCV Id: RCV002047158
dbSNP Id: rs2115396671
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116920_19116922del , CM000669.2:g.19116920_19116922del GRCh38
NC_000007.13:g.19156543_19156545del , CM000669.1:g.19156543_19156545del GRCh37
NC_000007.12:g.19123068_19123070del NCBI36
NG_008114.1:g.5754_5756del
NG_008114.2:g.5754_5756del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.403_405del MANE Select ENSP00000242261.5:p.Ile135del
ENST00000242261.5:c.403_405del ENSP00000242261.5:p.Ile135del
ENST00000354571.5:c.200_202del
ENST00000443687.5:c.6_8del
NM_000474.3:c.403_405del NP_000465.1:p.Ile135del
XM_011515496.1:c.403_405del XP_011513798.1:p.Ile135del
NR_149001.1:n.754_756del
NM_000474.4:c.403_405del MANE Select NP_000465.1:p.Ile135del
NR_149001.2:n.718_720del
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