Canonical Allele Identifier: CA2681939779

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117372-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117376del , CM000669.2:g.19117376del	GRCh38
NC_000007.13:g.19156999del , CM000669.1:g.19156999del	GRCh37
NC_000007.12:g.19123524del	NCBI36
NG_008114.1:g.5300del
NG_008114.2:g.5300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.-52del MANE Select	ENSP00000242261.5:n.-52del
ENST00000242261.5:c.-52del	ENSP00000242261.5:n.-52del
NM_000474.3:c.-52del	NP_000465.1:n.-52del
XM_011515496.1:c.-52del	XP_011513798.1:n.-52del
NR_149001.1:n.300del
NM_000474.4:c.-52del MANE Select	NP_000465.1:n.-52del
NR_149001.2:n.264del