Linked Data
ClinVar Variation Id:
375746
dbSNP Id:
rs41474145
gnomAD v2:
16-223003-AGAGGT-A
gnomAD v3:
16-173004-AGAGGT-A
gnomAD v4:
16-173004-AGAGGT-A
MyVariant Identifiers:
chr16:g.223008_223012del (hg19)
chr16:g.223004_223008del (hg19)
chr16:g.173009_173013del (hg38)
chr16:g.173005_173009del (hg38)
PubMed:
PMID:20301608
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173009_173013del , CM000678.2:g.173009_173013del | GRCh38 |
| NC_000016.9:g.223008_223012del , CM000678.1:g.223008_223012del | GRCh37 |
| NC_000016.8:g.163008_163012del | NCBI36 |
| NG_000006.1:g.33872_33876del | |
| NG_059186.1:g.1359_1363del | |
| NG_059271.1:g.5163_5167del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.95+2_95+6del | ||
| ENST00000251595.10:c.95+2_95+6del | ||
| ENST00000397806.1:c.-2+51_-2+55del | ENSP00000380908.1:n.-2+51_-2+55del | |
| ENST00000482565.1:n.116_120del | ||
| ENST00000484216.1:n.64+2_64+6del | ||
| NM_000517.4:c.95+2_95+6del | ||
| NM_000517.6:c.95+2_95+6del |