Canonical Allele Identifier: CA2681939877

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117444-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117445del , CM000669.2:g.19117445del	GRCh38
NC_000007.13:g.19157068del , CM000669.1:g.19157068del	GRCh37
NC_000007.12:g.19123593del	NCBI36
NG_008114.1:g.5228del
NG_008114.2:g.5228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.-124del MANE Select	ENSP00000242261.5:n.-124del
ENST00000242261.5:c.-124del	ENSP00000242261.5:n.-124del
NM_000474.3:c.-124del	NP_000465.1:n.-124del
NR_149001.1:n.228del
NM_000474.4:c.-124del MANE Select	NP_000465.1:n.-124del
NR_149001.2:n.192del