Canonical Allele Identifier: CA4174526
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3056088
ClinVar RCV Id: RCV004540877
dbSNP Id: rs750238627
ExAC: 7:19156668 TGCC / T
gnomAD v2: 7-19156668-TGCC-T
gnomAD v3: 7-19117045-TGCC-T
gnomAD v4: 7-19117045-TGCC-T
MyVariant Identifiers: chr7:g.19156669_19156671del (hg19) chr7:g.19156681_19156686delinsCGC (hg19) chr7:g.19156681_19156689delinsCGCGCC (hg19) chr7:g.19117047_19117049del (hg38) chr7:g.19117046_19117048del (hg38) chr7:g.19117058_19117066delinsCGCGCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117058_19117060del , CM000669.2:g.19117058_19117060del GRCh38
NC_000007.13:g.19156681_19156683del , CM000669.1:g.19156681_19156683del GRCh37
NC_000007.12:g.19123206_19123208del NCBI36
NG_008114.1:g.5625_5627del
NG_008114.2:g.5625_5627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.274_276del MANE Select ENSP00000242261.5:p.Gly92del
ENST00000242261.5:c.274_276del ENSP00000242261.5:p.Gly92del
ENST00000354571.5:c.71_73del
NM_000474.3:c.274_276del NP_000465.1:p.Gly92del
XM_011515496.1:c.274_276del XP_011513798.1:p.Gly92del
NR_149001.1:n.625_627del
NM_000474.4:c.274_276del MANE Select NP_000465.1:p.Gly92del
NR_149001.2:n.589_591del
Search 100 bp 5'
Search 100 bp 3'