Canonical Allele Identifier: CA2681939856

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117426-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117428del , CM000669.2:g.19117428del	GRCh38
NC_000007.13:g.19157051del , CM000669.1:g.19157051del	GRCh37
NC_000007.12:g.19123576del	NCBI36
NG_008114.1:g.5246del
NG_008114.2:g.5246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.-106del MANE Select	ENSP00000242261.5:n.-106del
ENST00000242261.5:c.-106del	ENSP00000242261.5:n.-106del
NM_000474.3:c.-106del	NP_000465.1:n.-106del
NR_149001.1:n.246del
NM_000474.4:c.-106del MANE Select	NP_000465.1:n.-106del
NR_149001.2:n.210del