Linked Data
ClinVar Variation Id:
293968
ClinVar RCV Id:
RCV000335881
dbSNP Id:
rs886045621
gnomAD v2:
1-182361114-AAG-A
gnomAD v3:
1-182391979-AAG-A
gnomAD v4:
1-182391979-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182391983_182391984del , CM000663.2:g.182391983_182391984del | GRCh38 |
| NC_000001.10:g.182361118_182361119del , CM000663.1:g.182361118_182361119del | GRCh37 |
| NC_000001.9:g.180627741_180627742del | NCBI36 |
| NG_013347.2:g.5226_5227del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311223.9:c.-672_-671del | ENSP00000307900.5:n.-672_-671del | |
| ENST00000331872.10:c.-316_-315del | ENSP00000356537.5:n.-316_-315del | |
| NM_001033044.3:c.-316_-315del | NP_001028216.1:n.-316_-315del | |
| NM_002065.6:c.-672_-671del | NP_002056.2:n.-672_-671del |