Canonical Allele Identifier: CA2681939882

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117449-A-AGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117456_19117459dup , CM000669.2:g.19117456_19117459dup	GRCh38
NC_000007.13:g.19157079_19157082dup , CM000669.1:g.19157079_19157082dup	GRCh37
NC_000007.12:g.19123604_19123607dup	NCBI36
NG_008114.1:g.5220_5223dup
NG_008114.2:g.5220_5223dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.-132_-129dup MANE Select	ENSP00000242261.5:n.-132_-129dup
ENST00000242261.5:c.-132_-129dup	ENSP00000242261.5:n.-132_-129dup
NM_000474.3:c.-132_-129dup	NP_000465.1:n.-132_-129dup
NR_149001.1:n.220_223dup
NM_000474.4:c.-132_-129dup MANE Select	NP_000465.1:n.-132_-129dup
NR_149001.2:n.184_187dup