Linked Data
ClinVar Variation Id:
2198527
ClinVar RCV Id:
RCV002629455
dbSNP Id:
rs753809698
ExAC:
16:31004564 GCAGA / G
gnomAD v2:
16-31004564-GCAGA-G
gnomAD v4:
16-30993243-GCAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993248_30993251del , CM000678.2:g.30993248_30993251del | GRCh38 |
| NC_000016.9:g.31004569_31004572del , CM000678.1:g.31004569_31004572del | GRCh37 |
| NC_000016.8:g.30912070_30912073del | NCBI36 |
| NG_041829.1:g.22262_22265del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.676-7_676-4del MANE Select | ENSP00000215095.5:n.676-7_676-4del | |
| ENST00000565419.2:c.676-7_676-4del | ENSP00000455899.1:n.676-7_676-4del | |
| ENST00000215095.9:c.676-7_676-4del | ENSP00000215095.5:n.676-7_676-4del | |
| ENST00000565419.1:c.676-7_676-4del | ENSP00000455899.1:n.676-7_676-4del | |
| ENST00000569638.5:c.424-7_424-4del | ENSP00000457067.1:n.424-7_424-4del | |
| NM_052874.4:c.676-7_676-4del | NP_443106.1:n.676-7_676-4del | |
| XM_017022893.1:c.658-7_658-4del | XP_016878382.1:n.658-7_658-4del | |
| NM_052874.5:c.676-7_676-4del MANE Select | NP_443106.1:n.676-7_676-4del |