Linked Data
ClinVar Variation Id:
558286
ClinVar RCV Id:
RCV000674530
dbSNP Id:
rs1553169726
MyVariant Identifiers:
chr1:g.53210720_53210721del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210720_53210721del , CM000663.2:g.53210720_53210721del | GRCh38 |
| NC_000001.10:g.53676392_53676393del , CM000663.1:g.53676392_53676393del | GRCh37 |
| NC_000001.9:g.53448980_53448981del | NCBI36 |
| NG_008035.1:g.19292_19293del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.1046_1047del MANE Select | ENSP00000360541.3:p.Asn349ThrfsTer4 | |
| ENST00000635862.1:c.1046_1047del | ENSP00000490867.1:p.Asn349ThrfsTer4 | |
| ENST00000635888.1:c.*1032_*1033del | ENSP00000490042.1:n.*1032_*1033del | |
| ENST00000636239.1:c.*693_*694del | ENSP00000490066.1:n.*693_*694del | |
| ENST00000636867.1:c.1046_1047del | ENSP00000489631.1:p.Asn349ThrfsTer4 | |
| ENST00000636891.1:c.1046_1047del | ENSP00000490399.1:p.Asn349ThrfsTer4 | |
| ENST00000636935.1:c.341-2544_341-2543del | ENSP00000489757.1:n.341-2544_341-2543del | |
| ENST00000637252.1:c.1046_1047del | ENSP00000490492.1:p.Asn349ThrfsTer4 | |
| ENST00000637726.1:n.3246_3247del | ||
| ENST00000638135.1:c.*693_*694del | ENSP00000489756.1:n.*693_*694del | |
| ENST00000371486.3:c.1046_1047del | ENSP00000360541.3:p.Asn349ThrfsTer4 | |
| NM_000098.2:c.1046_1047del | NP_000089.1:p.Asn349ThrfsTer4 | |
| XM_005270484.1:c.1046_1047del | XP_005270541.1:p.Asn349ThrfsTer4 | |
| NM_001330589.1:c.1046_1047del | NP_001317518.1:p.Asn349ThrfsTer4 | |
| NM_000098.3:c.1046_1047del MANE Select | NP_000089.1:p.Asn349ThrfsTer4 | |
| NM_001330589.2:c.1046_1047del | NP_001317518.1:p.Asn349ThrfsTer4 |