Linked Data
ClinVar Variation Id:
1026664
ClinVar RCV Id:
RCV001327143
dbSNP Id:
rs1312220751
gnomAD v3:
3-10142985-AAG-A
gnomAD v4:
3-10142985-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142990_10142991del , CM000665.2:g.10142990_10142991del | GRCh38 |
| NC_000003.11:g.10184674_10184675del , CM000665.1:g.10184674_10184675del | GRCh37 |
| NC_000003.10:g.10159674_10159675del | NCBI36 |
| NG_008212.3:g.6356_6357del , LRG_322:g.6356_6357del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.568_569del | ENSP00000512434.1:p.Ser190GlnfsTer10 | |
| ENST00000696143.1:c.568_569del | ENSP00000512435.1:p.Ser190GlnfsTer10 | |
| ENST00000696153.1:c.340+803_340+804del | ENSP00000512444.1:n.340+803_340+804del | |
| ENST00000256474.3:c.340+803_340+804del MANE Select | ENSP00000256474.3:n.340+803_340+804del | |
| ENST00000256474.2:c.340+803_340+804del | ENSP00000256474.2:n.340+803_340+804del | |
| ENST00000345392.2:c.340+803_340+804del | ENSP00000344757.2:n.340+803_340+804del | |
| ENST00000477538.1:n.445_446del | ||
| NM_000551.3:c.340+803_340+804del , LRG_322t1:c.340+803_340+804del | NP_000542.1:n.340+803_340+804del | |
| NM_198156.2:c.340+803_340+804del | NP_937799.1:n.340+803_340+804del | |
| XM_011534078.1:c.568_569del | XP_011532380.1:p.Ser190GlnfsTer10 | |
| NM_001354723.1:c.568_569del | NP_001341652.1:p.Ser190GlnfsTer10 | |
| NM_000551.4:c.340+803_340+804del MANE Select | NP_000542.1:n.340+803_340+804del | |
| NM_001354723.2:c.568_569del | NP_001341652.1:p.Ser190GlnfsTer10 | |
| NM_198156.3:c.340+803_340+804del | NP_937799.1:n.340+803_340+804del |