Linked Data
ClinVar Variation Id:
2846593
ClinVar RCV Id:
RCV003628480
dbSNP Id:
rs1489308019
gnomAD v2:
10-73587883-TG-T
gnomAD v3:
10-71828126-TG-T
gnomAD v4:
10-71828126-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71828127del , CM000672.2:g.71828127del | GRCh38 |
| NC_000010.10:g.73587884del , CM000672.1:g.73587884del | GRCh37 |
| NC_000010.9:g.73257890del | NCBI36 |
| NG_009301.1:g.28199del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.607del MANE Select | ENSP00000378394.3:p.Gln203ArgfsTer3 | |
| ENST00000394934.4:c.607del | ENSP00000378392.2:p.Gln203ArgfsTer3 | |
| ENST00000394936.7:c.607del | ENSP00000378394.3:p.Gln203ArgfsTer3 | |
| ENST00000610929.3:c.270+3104del | ENSP00000480857.1:n.270+3104del | |
| ENST00000633965.1:c.8del | ||
| NM_001042465.1:c.607del | NP_001035930.1:p.Gln203ArgfsTer3 | |
| NM_001042466.1:c.607del | NP_001035931.1:p.Gln203ArgfsTer3 | |
| NM_002778.2:c.607del | NP_002769.1:p.Gln203ArgfsTer3 | |
| NM_001042465.2:c.607del | NP_001035930.1:p.Gln203ArgfsTer3 | |
| NM_001042466.2:c.607del | NP_001035931.1:p.Gln203ArgfsTer3 | |
| NM_002778.3:c.607del | NP_002769.1:p.Gln203ArgfsTer3 | |
| NM_002778.4:c.607del MANE Select | NP_002769.1:p.Gln203ArgfsTer3 | |
| NM_001042465.3:c.607del | NP_001035930.1:p.Gln203ArgfsTer3 | |
| NM_001042466.3:c.607del | NP_001035931.1:p.Gln203ArgfsTer3 |