Linked Data
ClinVar Variation Id:
66694
dbSNP Id:
rs58640772
MyVariant Identifiers:
chr8:g.24813970_24813982dupCTCCACGTAGCGC (hg19)
chr8:g.24813969_24813970insCTCCACGTAGCGC (hg19)
chr8:g.24956456_24956468dupCTCCACGTAGCGC (hg38)
chr8:g.24956455_24956456insCTCCACGTAGCGC (hg38)
PubMed:
PMID:16619203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956457_24956469dup , CM000670.2:g.24956457_24956469dup | GRCh38 |
| NC_000008.10:g.24813971_24813983dup , CM000670.1:g.24813971_24813983dup | GRCh37 |
| NC_000008.9:g.24869888_24869900dup | NCBI36 |
| NG_008492.1:g.5150_5162dup , LRG_259:g.5150_5162dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.48_60dup MANE Select | ENSP00000482169.2:p.Thr21AlafsTer? | |
| ENST00000610854.1:c.48_60dup | ENSP00000482169.1:p.Thr21AlafsTer? | |
| ENST00000615973.1:n.254_266dup | ||
| ENST00000619417.1:c.48_60dup | ENSP00000483690.1:p.Thr21AlafsTer? | |
| NM_006158.4:c.48_60dup , LRG_259t1:c.48_60dup | NP_006149.2:p.Thr21AlafsTer? | |
| NM_006158.5:c.48_60dup MANE Select | NP_006149.2:p.Thr21AlafsTer? |