Canonical Allele Identifier: CA1139655103

Gene: TWIST1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116938dup , CM000669.2:g.19116938dup	GRCh38
NC_000007.13:g.19156561dup , CM000669.1:g.19156561dup	GRCh37
NC_000007.12:g.19123086dup	NCBI36
NG_008114.1:g.5735dup
NG_008114.2:g.5735dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.384dup MANE Select	ENSP00000242261.5:p.Ala129ArgfsTer?
ENST00000242261.5:c.384dup	ENSP00000242261.5:p.Ala129ArgfsTer?
ENST00000354571.5:c.181dup
NM_000474.3:c.384dup	NP_000465.1:p.Ala129ArgfsTer?
XM_011515496.1:c.384dup	XP_011513798.1:p.Ala129ArgfsTer?
NR_149001.1:n.735dup
NM_000474.4:c.384dup MANE Select	NP_000465.1:p.Ala129ArgfsTer?
NR_149001.2:n.699dup