Linked Data
ClinVar Variation Id:
496056
ClinVar RCV Id:
RCV000586656
dbSNP Id:
rs779747717
ExAC:
3:10188173 TAAC / T
gnomAD v2:
3-10188173-TAAC-T
gnomAD v3:
3-10146489-TAAC-T
gnomAD v4:
3-10146489-TAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146493_10146495del , CM000665.2:g.10146493_10146495del | GRCh38 |
| NC_000003.11:g.10188177_10188179del , CM000665.1:g.10188177_10188179del | GRCh37 |
| NC_000003.10:g.10163177_10163179del | NCBI36 |
| NG_008212.3:g.9859_9861del , LRG_322:g.9859_9861del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*18-21_*18-19del | ENSP00000512434.1:n.*18-21_*18-19del | |
| ENST00000696143.1:c.600-3294_600-3292del | ENSP00000512435.1:n.600-3294_600-3292del | |
| ENST00000696153.1:c.341-21_341-19del | ENSP00000512444.1:n.341-21_341-19del | |
| ENST00000256474.3:c.341-21_341-19del MANE Select | ENSP00000256474.3:n.341-21_341-19del | |
| ENST00000256474.2:c.341-21_341-19del | ENSP00000256474.2:n.341-21_341-19del | |
| ENST00000345392.2:c.341-3294_341-3292del | ENSP00000344757.2:n.341-3294_341-3292del | |
| ENST00000477538.1:n.477-21_477-19del | ||
| NM_000551.3:c.341-21_341-19del , LRG_322t1:c.341-21_341-19del | NP_000542.1:n.341-21_341-19del | |
| NM_198156.2:c.341-3294_341-3292del | NP_937799.1:n.341-3294_341-3292del | |
| XM_011534078.1:c.*18-21_*18-19del | XP_011532380.1:n.*18-21_*18-19del | |
| NM_001354723.1:c.*18-3294_*18-3292del | NP_001341652.1:n.*18-3294_*18-3292del | |
| NM_000551.4:c.341-21_341-19del MANE Select | NP_000542.1:n.341-21_341-19del | |
| NM_001354723.2:c.*18-3294_*18-3292del | NP_001341652.1:n.*18-3294_*18-3292del | |
| NM_198156.3:c.341-3294_341-3292del | NP_937799.1:n.341-3294_341-3292del |