Canonical Allele Identifier: CA658657662
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458686
ClinVar RCV Id: RCV000533193 RCV001390587 RCV001564317 RCV003229593
dbSNP Id: rs1554441989
gnomAD v4: 7-19116904-A-AGGGCAGCGTGGGGATGATCTT
MyVariant Identifiers: chr7:g.19156528_19156548dup (hg19) chr7:g.19116905_19116925dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116905_19116925dup , CM000669.2:g.19116905_19116925dup GRCh38
NC_000007.13:g.19156528_19156548dup , CM000669.1:g.19156528_19156548dup GRCh37
NC_000007.12:g.19123053_19123073dup NCBI36
NG_008114.1:g.5748_5768dup
NG_008114.2:g.5748_5768dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.397_417dup MANE Select ENSP00000242261.5:p.Pro139_Ser140insLysIleIleProThrLeuPro
ENST00000242261.5:c.397_417dup ENSP00000242261.5:p.Pro139_Ser140insLysIleIleProThrLeuPro
ENST00000354571.5:c.194_214dup
NM_000474.3:c.397_417dup NP_000465.1:p.Pro139_Ser140insLysIleIleProThrLeuPro
XM_011515496.1:c.397_417dup XP_011513798.1:p.Pro139_Ser140insLysIleIleProThrLeuPro
NR_149001.1:n.748_768dup
NM_000474.4:c.397_417dup MANE Select NP_000465.1:p.Pro139_Ser140insLysIleIleProThrLeuPro
NR_149001.2:n.712_732dup
Search 100 bp 5'
Search 100 bp 3'