Canonical Allele Identifier: CA1692249826

Gene: TWIST1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116525_19116528delinsGCGC , CM000669.2:g.19116525_19116528delinsGCGC	GRCh38
NC_000007.13:g.19156148_19156151delinsGCGC , CM000669.1:g.19156148_19156151delinsGCGC	GRCh37
NC_000007.12:g.19122673_19122676delinsGCGC	NCBI36
NG_008114.1:g.6145_6148delinsGCGC
NG_008114.2:g.6145_6148delinsGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+143_*42+146delinsGCGC MANE Select	ENSP00000242261.5:n.*42+143_*42+146delinsGCGC
ENST00000242261.5:c.*42+143_*42+146delinsGCGC	ENSP00000242261.5:n.*42+143_*42+146delinsGCGC
ENST00000354571.5:c.448+143_448+146delinsGCGC
ENST00000443687.5:c.254+143_254+146delinsGCGC
NM_000474.3:c.*42+143_*42+146delinsGCGC	NP_000465.1:n.*42+143_*42+146delinsGCGC
XM_011515496.1:c.*42+143_*42+146delinsGCGC	XP_011513798.1:n.*42+143_*42+146delinsGCGC
NR_149001.1:n.1002+143_1002+146delinsGCGC
NM_000474.4:c.*42+143_*42+146delinsGCGC MANE Select	NP_000465.1:n.*42+143_*42+146delinsGCGC
NR_149001.2:n.966+143_966+146delinsGCGC