Canonical Allele Identifier: CA1692249838

Gene: TWIST1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116532_19116535delinsGCAA , CM000669.2:g.19116532_19116535delinsGCAA	GRCh38
NC_000007.13:g.19156155_19156158delinsGCAA , CM000669.1:g.19156155_19156158delinsGCAA	GRCh37
NC_000007.12:g.19122680_19122683delinsGCAA	NCBI36
NG_008114.1:g.6138_6141delinsTTGC
NG_008114.2:g.6138_6141delinsTTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+136_*42+139delinsTTGC MANE Select	ENSP00000242261.5:n.*42+136_*42+139delinsTTGC
ENST00000242261.5:c.*42+136_*42+139delinsTTGC	ENSP00000242261.5:n.*42+136_*42+139delinsTTGC
ENST00000354571.5:c.448+136_448+139delinsTTGC
ENST00000443687.5:c.254+136_254+139delinsTTGC
NM_000474.3:c.*42+136_*42+139delinsTTGC	NP_000465.1:n.*42+136_*42+139delinsTTGC
XM_011515496.1:c.*42+136_*42+139delinsTTGC	XP_011513798.1:n.*42+136_*42+139delinsTTGC
NR_149001.1:n.1002+136_1002+139delinsTTGC
NM_000474.4:c.*42+136_*42+139delinsTTGC MANE Select	NP_000465.1:n.*42+136_*42+139delinsTTGC
NR_149001.2:n.966+136_966+139delinsTTGC