Linked Data
ClinVar Variation Id:
2165193
ClinVar RCV Id:
RCV003084242
dbSNP Id:
rs1215020674
gnomAD v2:
1-53676135-TG-T
gnomAD v4:
1-53210463-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210464del , CM000663.2:g.53210464del | GRCh38 |
| NC_000001.10:g.53676136del , CM000663.1:g.53676136del | GRCh37 |
| NC_000001.9:g.53448724del | NCBI36 |
| NG_008035.1:g.19036del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.790del MANE Select | ENSP00000360541.3:p.Val264Ter | |
| ENST00000635862.1:c.790del | ENSP00000490867.1:p.Val264Ter | |
| ENST00000635888.1:c.*776del | ENSP00000490042.1:n.*776del | |
| ENST00000636239.1:c.*437del | ENSP00000490066.1:n.*437del | |
| ENST00000636867.1:c.790del | ENSP00000489631.1:p.Val264Ter | |
| ENST00000636891.1:c.790del | ENSP00000490399.1:p.Val264Ter | |
| ENST00000636935.1:c.341-2800del | ENSP00000489757.1:n.341-2800del | |
| ENST00000637252.1:c.790del | ENSP00000490492.1:p.Val264Ter | |
| ENST00000637726.1:n.2990del | ||
| ENST00000638135.1:c.*437del | ENSP00000489756.1:n.*437del | |
| ENST00000371486.3:c.790del | ENSP00000360541.3:p.Val264Ter | |
| NM_000098.2:c.790del | NP_000089.1:p.Val264Ter | |
| XM_005270484.1:c.790del | XP_005270541.1:p.Val264Ter | |
| NM_001330589.1:c.790del | NP_001317518.1:p.Val264Ter | |
| NM_000098.3:c.790del MANE Select | NP_000089.1:p.Val264Ter | |
| NM_001330589.2:c.790del | NP_001317518.1:p.Val264Ter |