Canonical Allele Identifier: CA915944882
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 694504
dbSNP Id: rs1585616948

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116903_19116923dup , CM000669.2:g.19116903_19116923dup GRCh38
NC_000007.13:g.19156526_19156546dup , CM000669.1:g.19156526_19156546dup GRCh37
NC_000007.12:g.19123051_19123071dup NCBI36
NG_008114.1:g.5751_5771dup
NG_008114.2:g.5751_5771dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.400_420dup MANE Select ENSP00000242261.5:p.Ser140_Asp141insIleIleProThrLeuProSer
ENST00000242261.5:c.400_420dup ENSP00000242261.5:p.Ser140_Asp141insIleIleProThrLeuProSer
ENST00000354571.5:c.197_217dup
ENST00000443687.5:c.3_23dup
NM_000474.3:c.400_420dup NP_000465.1:p.Ser140_Asp141insIleIleProThrLeuProSer
XM_011515496.1:c.400_420dup XP_011513798.1:p.Ser140_Asp141insIleIleProThrLeuProSer
NR_149001.1:n.751_771dup
NM_000474.4:c.400_420dup MANE Select NP_000465.1:p.Ser140_Asp141insIleIleProThrLeuProSer
NR_149001.2:n.715_735dup