Canonical Allele Identifier: CA1692250477

Gene: TWIST1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116906_19116927delinsGGCAGCGTGGGGATGATCTTCC , CM000669.2:g.19116906_19116927delinsGGCAGCGTGGGGATGATCTTCC	GRCh38
NC_000007.13:g.19156529_19156550delinsGGCAGCGTGGGGATGATCTTCC , CM000669.1:g.19156529_19156550delinsGGCAGCGTGGGGATGATCTTCC	GRCh37
NC_000007.12:g.19123054_19123075delinsGGCAGCGTGGGGATGATCTTCC	NCBI36
NG_008114.1:g.5746_5767delinsGGAAGATCATCCCCACGCTGCC
NG_008114.2:g.5746_5767delinsGGAAGATCATCCCCACGCTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.395_416delinsGGAAGATCATCCCCACGCTGCC MANE Select	ENSP00000242261.5:p.Arg132=
ENST00000242261.5:c.395_416delinsGGAAGATCATCCCCACGCTGCC	ENSP00000242261.5:p.Arg132=
ENST00000354571.5:c.192_213delinsGGAAGATCATCCCCACGCTGCC
NM_000474.3:c.395_416delinsGGAAGATCATCCCCACGCTGCC	NP_000465.1:p.Arg132=
XM_011515496.1:c.395_416delinsGGAAGATCATCCCCACGCTGCC	XP_011513798.1:p.Arg132=
NR_149001.1:n.746_767delinsGGAAGATCATCCCCACGCTGCC
NM_000474.4:c.395_416delinsGGAAGATCATCCCCACGCTGCC MANE Select	NP_000465.1:p.Arg132=
NR_149001.2:n.710_731delinsGGAAGATCATCCCCACGCTGCC