Canonical Allele Identifier: CA658796907
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543075
ClinVar RCV Id: RCV000653733 RCV001092558
dbSNP Id: rs1554441991
MyVariant Identifiers: chr7:g.19156529_19156549dup (hg19) chr7:g.19116906_19116926dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116906_19116926dup , CM000669.2:g.19116906_19116926dup GRCh38
NC_000007.13:g.19156529_19156549dup , CM000669.1:g.19156529_19156549dup GRCh37
NC_000007.12:g.19123054_19123074dup NCBI36
NG_008114.1:g.5747_5767dup
NG_008114.2:g.5747_5767dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.396_416dup MANE Select ENSP00000242261.5:p.Pro139_Ser140insLysIleIleProThrLeuPro
ENST00000242261.5:c.396_416dup ENSP00000242261.5:p.Pro139_Ser140insLysIleIleProThrLeuPro
ENST00000354571.5:c.193_213dup
NM_000474.3:c.396_416dup NP_000465.1:p.Pro139_Ser140insLysIleIleProThrLeuPro
XM_011515496.1:c.396_416dup XP_011513798.1:p.Pro139_Ser140insLysIleIleProThrLeuPro
NR_149001.1:n.747_767dup
NM_000474.4:c.396_416dup MANE Select NP_000465.1:p.Pro139_Ser140insLysIleIleProThrLeuPro
NR_149001.2:n.711_731dup
Search 100 bp 5'
Search 100 bp 3'