Linked Data
ClinVar Variation Id:
403202
ClinVar RCV Id:
RCV000455483
dbSNP Id:
rs111749447
ExAC:
11:1018167 ATCG / A
gnomAD v2:
11-1018167-ATCG-A
gnomAD v3:
11-1018167-ATCG-A
gnomAD v4:
11-1018167-ATCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1018169_1018171del , CM000673.2:g.1018169_1018171del | GRCh38 |
| NC_000011.9:g.1018169_1018171del , CM000673.1:g.1018169_1018171del | GRCh37 |
| NC_000011.8:g.1008169_1008171del | NCBI36 |
| NG_052845.1:g.23537_23539del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421673.7:c.4631_4633del MANE Select | ENSP00000406861.2:p.Thr1544del | |
| ENST00000421673.6:c.4631_4633del | ENSP00000406861.2:p.Thr1544del | |
| NM_005961.2:c.4631_4633del | NP_005952.2:p.Thr1544del | |
| NM_005961.3:c.4631_4633del MANE Select | NP_005952.2:p.Thr1544del |