Linked Data
dbSNP Id:
rs1645321237
gnomAD v3:
1-53196667-AGGGAAGGGAAG-A
gnomAD v4:
1-53196667-AGGGAAGGGAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196670_53196680del , CM000663.2:g.53196670_53196680del | GRCh38 |
| NC_000001.10:g.53662342_53662352del , CM000663.1:g.53662342_53662352del | GRCh37 |
| NC_000001.9:g.53434930_53434940del | NCBI36 |
| NG_008035.1:g.5242_5252del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.3:c.-274_-264del | ENSP00000360541.3:n.-274_-264del | |
| NM_000098.2:c.-274_-264del | NP_000089.1:n.-274_-264del | |
| NM_001330589.1:c.-274_-264del | NP_001317518.1:n.-274_-264del |