Linked Data
ClinVar Variation Id:
342405
ClinVar RCV Id:
RCV000400790
dbSNP Id:
rs886057704
gnomAD v3:
3-10150228-AAGTC-A
gnomAD v4:
3-10150228-AAGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10150231_10150234del , CM000665.2:g.10150231_10150234del | GRCh38 |
| NC_000003.11:g.10191915_10191918del , CM000665.1:g.10191915_10191918del | GRCh37 |
| NC_000003.10:g.10166915_10166918del | NCBI36 |
| NG_008212.3:g.13597_13600del , LRG_322:g.13597_13600del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*585_*588del | ENSP00000512434.1:n.*585_*588del | |
| ENST00000696143.1:c.1044_1047del | ENSP00000512435.1:n.1044_1047del | |
| ENST00000696153.1:c.*266_*269del | ENSP00000512444.1:n.*266_*269del | |
| ENST00000256474.3:c.*266_*269del MANE Select | ENSP00000256474.3:n.*266_*269del | |
| ENST00000256474.2:c.*266_*269del | ENSP00000256474.2:n.*266_*269del | |
| ENST00000345392.2:c.*266_*269del | ENSP00000344757.2:n.*266_*269del | |
| NM_000551.3:c.*266_*269del , LRG_322t1:c.*266_*269del | NP_000542.1:n.*266_*269del | |
| NM_198156.2:c.*266_*269del | NP_937799.1:n.*266_*269del | |
| NM_001354723.1:c.*462_*465del | NP_001341652.1:n.*462_*465del | |
| NM_000551.4:c.*266_*269del MANE Select | NP_000542.1:n.*266_*269del | |
| NM_001354723.2:c.*462_*465del | NP_001341652.1:n.*462_*465del | |
| NM_198156.3:c.*266_*269del | NP_937799.1:n.*266_*269del |