Linked Data
ClinVar Variation Id:
291965
ClinVar RCV Id:
RCV000395739
dbSNP Id:
rs775070295
gnomAD v2:
1-115249651-CAA-C
gnomAD v3:
1-114707030-CAA-C
gnomAD v4:
1-114707030-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114707032_114707033del , CM000663.2:g.114707032_114707033del | GRCh38 |
| NC_000001.10:g.115249653_115249654del , CM000663.1:g.115249653_115249654del | GRCh37 |
| NC_000001.9:g.115051176_115051177del | NCBI36 |
| NG_007572.1:g.14863_14864del , LRG_92:g.14863_14864del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*1062_*1063del MANE Select | ENSP00000358548.4:n.*1062_*1063del | |
| ENST00000369535.4:c.*1062_*1063del | ENSP00000358548.4:n.*1062_*1063del | |
| NM_002524.4:c.*1062_*1063del | NP_002515.1:n.*1062_*1063del | |
| NM_002524.5:c.*1062_*1063del MANE Select | NP_002515.1:n.*1062_*1063del |