Canonical Allele Identifier: CA2681939847

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117418-GGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117420_19117422del , CM000669.2:g.19117420_19117422del	GRCh38
NC_000007.13:g.19157043_19157045del , CM000669.1:g.19157043_19157045del	GRCh37
NC_000007.12:g.19123568_19123570del	NCBI36
NG_008114.1:g.5252_5254del
NG_008114.2:g.5252_5254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.-100_-98del MANE Select	ENSP00000242261.5:n.-100_-98del
ENST00000242261.5:c.-100_-98del	ENSP00000242261.5:n.-100_-98del
NM_000474.3:c.-100_-98del	NP_000465.1:n.-100_-98del
NR_149001.1:n.252_254del
NM_000474.4:c.-100_-98del MANE Select	NP_000465.1:n.-100_-98del
NR_149001.2:n.216_218del