Canonical Allele Identifier: CA1692249813

Gene: TWIST1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116516_19116525delinsACGCTGGGGG , CM000669.2:g.19116516_19116525delinsACGCTGGGGG	GRCh38
NC_000007.13:g.19156139_19156148delinsACGCTGGGGG , CM000669.1:g.19156139_19156148delinsACGCTGGGGG	GRCh37
NC_000007.12:g.19122664_19122673delinsACGCTGGGGG	NCBI36
NG_008114.1:g.6148_6157delinsCCCCCAGCGT
NG_008114.2:g.6148_6157delinsCCCCCAGCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+146_*42+155delinsCCCCCAGCGT MANE Select	ENSP00000242261.5:n.*42+146_*42+155delinsCCCCCAGCGT
ENST00000242261.5:c.*42+146_*42+155delinsCCCCCAGCGT	ENSP00000242261.5:n.*42+146_*42+155delinsCCCCCAGCGT
ENST00000354571.5:c.448+146_448+155delinsCCCCCAGCGT
ENST00000443687.5:c.254+146_254+155delinsCCCCCAGCGT
NM_000474.3:c.*42+146_*42+155delinsCCCCCAGCGT	NP_000465.1:n.*42+146_*42+155delinsCCCCCAGCGT
XM_011515496.1:c.*42+146_*42+155delinsCCCCCAGCGT	XP_011513798.1:n.*42+146_*42+155delinsCCCCCAGCGT
NR_149001.1:n.1002+146_1002+155delinsCCCCCAGCGT
NM_000474.4:c.*42+146_*42+155delinsCCCCCAGCGT MANE Select	NP_000465.1:n.*42+146_*42+155delinsCCCCCAGCGT
NR_149001.2:n.966+146_966+155delinsCCCCCAGCGT