Linked Data
ClinVar Variation Id:
953482
ClinVar RCV Id:
RCV001225780
dbSNP Id:
rs1645415258
gnomAD v4:
1-53210399-ACCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210403_53210405del , CM000663.2:g.53210403_53210405del | GRCh38 |
| NC_000001.10:g.53676075_53676077del , CM000663.1:g.53676075_53676077del | GRCh37 |
| NC_000001.9:g.53448663_53448665del | NCBI36 |
| NG_008035.1:g.18975_18977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.729_731del MANE Select | ENSP00000360541.3:p.Leu244del | |
| ENST00000635862.1:c.729_731del | ENSP00000490867.1:p.Leu244del | |
| ENST00000635888.1:c.*715_*717del | ENSP00000490042.1:n.*715_*717del | |
| ENST00000636239.1:c.*376_*378del | ENSP00000490066.1:n.*376_*378del | |
| ENST00000636867.1:c.729_731del | ENSP00000489631.1:p.Leu244del | |
| ENST00000636891.1:c.729_731del | ENSP00000490399.1:p.Leu244del | |
| ENST00000636935.1:c.341-2861_341-2859del | ENSP00000489757.1:n.341-2861_341-2859del | |
| ENST00000637252.1:c.729_731del | ENSP00000490492.1:p.Leu244del | |
| ENST00000637726.1:n.2929_2931del | ||
| ENST00000638135.1:c.*376_*378del | ENSP00000489756.1:n.*376_*378del | |
| ENST00000371486.3:c.729_731del | ENSP00000360541.3:p.Leu244del | |
| NM_000098.2:c.729_731del | NP_000089.1:p.Leu244del | |
| XM_005270484.1:c.729_731del | XP_005270541.1:p.Leu244del | |
| NM_001330589.1:c.729_731del | NP_001317518.1:p.Leu244del | |
| NM_000098.3:c.729_731del MANE Select | NP_000089.1:p.Leu244del | |
| NM_001330589.2:c.729_731del | NP_001317518.1:p.Leu244del |