Linked Data
ClinVar Variation Id:
438314
dbSNP Id:
rs1270618112
gnomAD v4:
19-11089355-ACTC-A
MyVariant Identifiers:
chr19:g.11200038_11200040del (hg19)
chr19:g.11200032_11200034del (hg19)
chr19:g.11089362_11089364del (hg38)
chr19:g.11089356_11089358del (hg38)
PubMed:
PMID:9610768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089362_11089364del , CM000681.2:g.11089362_11089364del | GRCh38 |
| NC_000019.9:g.11200038_11200040del , CM000681.1:g.11200038_11200040del | GRCh37 |
| NC_000019.8:g.11061038_11061040del | NCBI36 |
| NG_009060.1:g.4982_4984del , LRG_274:g.4982_4984del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_163945.1:n.302_304del |