Linked Data
ClinVar Variation Id:
555964
ClinVar RCV Id:
RCV000671888
dbSNP Id:
rs1195259425
gnomAD v2:
1-53676223-AGT-A
gnomAD v3:
1-53210551-AGT-A
gnomAD v4:
1-53210551-AGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210553_53210554del , CM000663.2:g.53210553_53210554del | GRCh38 |
| NC_000001.10:g.53676225_53676226del , CM000663.1:g.53676225_53676226del | GRCh37 |
| NC_000001.9:g.53448813_53448814del | NCBI36 |
| NG_008035.1:g.19125_19126del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.879_880del MANE Select | ENSP00000360541.3:p.Ser293ArgfsTer16 | |
| ENST00000635862.1:c.879_880del | ENSP00000490867.1:p.Ser293ArgfsTer16 | |
| ENST00000635888.1:c.*865_*866del | ENSP00000490042.1:n.*865_*866del | |
| ENST00000636239.1:c.*526_*527del | ENSP00000490066.1:n.*526_*527del | |
| ENST00000636867.1:c.879_880del | ENSP00000489631.1:p.Ser293ArgfsTer16 | |
| ENST00000636891.1:c.879_880del | ENSP00000490399.1:p.Ser293ArgfsTer16 | |
| ENST00000636935.1:c.341-2711_341-2710del | ENSP00000489757.1:n.341-2711_341-2710del | |
| ENST00000637252.1:c.879_880del | ENSP00000490492.1:p.Ser293ArgfsTer16 | |
| ENST00000637726.1:n.3079_3080del | ||
| ENST00000638135.1:c.*526_*527del | ENSP00000489756.1:n.*526_*527del | |
| ENST00000371486.3:c.879_880del | ENSP00000360541.3:p.Ser293ArgfsTer16 | |
| NM_000098.2:c.879_880del | NP_000089.1:p.Ser293ArgfsTer16 | |
| XM_005270484.1:c.879_880del | XP_005270541.1:p.Ser293ArgfsTer16 | |
| NM_001330589.1:c.879_880del | NP_001317518.1:p.Ser293ArgfsTer16 | |
| NM_000098.3:c.879_880del MANE Select | NP_000089.1:p.Ser293ArgfsTer16 | |
| NM_001330589.2:c.879_880del | NP_001317518.1:p.Ser293ArgfsTer16 |