Linked Data
ClinVar Variation Id:
291946
ClinVar RCV Id:
RCV000300681
dbSNP Id:
rs61652108
gnomAD v2:
1-115247749-TA-T
gnomAD v3:
1-114705128-TA-T
gnomAD v4:
1-114705128-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114705135del , CM000663.2:g.114705135del | GRCh38 |
| NC_000001.10:g.115247756del , CM000663.1:g.115247756del | GRCh37 |
| NC_000001.9:g.115049279del | NCBI36 |
| NG_007572.1:g.16766del , LRG_92:g.16766del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*2965del MANE Select | ENSP00000358548.4:n.*2965del | |
| ENST00000369535.4:c.*2965del | ENSP00000358548.4:n.*2965del | |
| NM_002524.4:c.*2965del | NP_002515.1:n.*2965del | |
| NM_002524.5:c.*2965del MANE Select | NP_002515.1:n.*2965del |