Canonical Allele Identifier: CA4174488

Gene: TWIST1

Linked Data

• ClinVar Variation Id: 931885
• ClinVar RCV Id: RCV001198862 ; RCV001263200 ; RCV001312832 ; RCV002462353 ; RCV003983848 ; RCV003313989
• dbSNP Id: rs748476974
• ExAC: 7:19156539 G / GGATGATCTTCCGCAGCGCGGC
• gnomAD v2: 7-19156539-G-GGATGATCTTCCGCAGCGCGGC
• gnomAD v4: 7-19116916-G-GGATGATCTTCCGCAGCGCGGC
• MyVariant Identifiers: chr7:g.19156539_19156540insGATGATCTTCCGCAGCGCGGC (hg19) ; chr7:g.19116916_19116917insGATGATCTTCCGCAGCGCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116919_19116939dup , CM000669.2:g.19116919_19116939dup	GRCh38
NC_000007.13:g.19156542_19156562dup , CM000669.1:g.19156542_19156562dup	GRCh37
NC_000007.12:g.19123067_19123087dup	NCBI36
NG_008114.1:g.5736_5756dup
NG_008114.2:g.5736_5756dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.385_405dup MANE Select	ENSP00000242261.5:p.Ile135_Pro136insAlaAlaLeuArgLysIleIle
ENST00000242261.5:c.385_405dup	ENSP00000242261.5:p.Ile135_Pro136insAlaAlaLeuArgLysIleIle
ENST00000354571.5:c.182_202dup
NM_000474.3:c.385_405dup	NP_000465.1:p.Ile135_Pro136insAlaAlaLeuArgLysIleIle
XM_011515496.1:c.385_405dup	XP_011513798.1:p.Ile135_Pro136insAlaAlaLeuArgLysIleIle
NR_149001.1:n.736_756dup
NM_000474.4:c.385_405dup MANE Select	NP_000465.1:p.Ile135_Pro136insAlaAlaLeuArgLysIleIle
NR_149001.2:n.700_720dup