Linked Data
ClinVar Variation Id:
116
ClinVar RCV Id:
RCV000000136
dbSNP Id:
rs112368783
gnomAD v2:
13-29233225-TC-T
gnomAD v3:
13-28659088-TC-T
gnomAD v4:
13-28659088-TC-T
MyVariant Identifiers:
chr13:g.29233227del (hg19)
chr13:g.29233226del (hg19)
chr13:g.28659090del (hg38)
chr13:g.28659089del (hg38)
PubMed:
PMID:20226437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659090del , CM000675.2:g.28659090del | GRCh38 |
| NC_000013.10:g.29233227del , CM000675.1:g.29233227del | GRCh37 |
| NC_000013.9:g.28131227del | NCBI36 |
| NG_027550.1:g.5087del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697716.1:c.-180del | ENSP00000513414.1:n.-180del | |
| NM_015932.5:c.-95del | NP_057016.1:n.-95del |