Linked Data
ClinVar Variation Id:
342410
ClinVar RCV Id:
RCV000367812
dbSNP Id:
rs886057707
gnomAD v3:
3-10150349-CT-C
gnomAD v4:
3-10150349-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10150350del , CM000665.2:g.10150350del | GRCh38 |
| NC_000003.11:g.10192034del , CM000665.1:g.10192034del | GRCh37 |
| NC_000003.10:g.10167034del | NCBI36 |
| NG_008212.3:g.13716del , LRG_322:g.13716del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*704del | ENSP00000512434.1:n.*704del | |
| ENST00000696143.1:c.1163del | ENSP00000512435.1:n.1163del | |
| ENST00000696153.1:c.*385del | ENSP00000512444.1:n.*385del | |
| ENST00000256474.3:c.*385del MANE Select | ENSP00000256474.3:n.*385del | |
| ENST00000256474.2:c.*385del | ENSP00000256474.2:n.*385del | |
| ENST00000345392.2:c.*385del | ENSP00000344757.2:n.*385del | |
| NM_000551.3:c.*385del , LRG_322t1:c.*385del | NP_000542.1:n.*385del | |
| NM_198156.2:c.*385del | NP_937799.1:n.*385del | |
| NM_001354723.1:c.*581del | NP_001341652.1:n.*581del | |
| NM_000551.4:c.*385del MANE Select | NP_000542.1:n.*385del | |
| NM_001354723.2:c.*581del | NP_001341652.1:n.*581del | |
| NM_198156.3:c.*385del | NP_937799.1:n.*385del |