Linked Data
ClinVar Variation Id:
471935
dbSNP Id:
rs1232905914
gnomAD v2:
19-18979475-AAAG-A
gnomAD v4:
19-18868666-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18868671_18868673del , CM000681.2:g.18868671_18868673del | GRCh38 |
| NC_000019.9:g.18979480_18979482del , CM000681.1:g.18979480_18979482del | GRCh37 |
| NC_000019.8:g.18840480_18840482del | NCBI36 |
| NG_012070.1:g.32476_32478del | |
| NG_033056.1:g.32476_32478del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623882.4:c.*1316_*1318del (CERS1) MANE Select | ENSP00000485308.1:n.*1316_*1318del | |
| ENST00000247005.8:c.1047_1049del (GDF1) MANE Select | ENSP00000247005.5:p.Phe350del | |
| ENST00000247005.7:c.1047_1049del (GDF1) | ENSP00000247005.5:p.Phe350del | |
| ENST00000623882.3:c.*1316_*1318del (CERS1) | ENSP00000485308.1:n.*1316_*1318del | |
| ENST00000623927.1:c.1047_1049del (CERS1) | ENSP00000485582.1:p.Phe350del | |
| NM_001492.5:c.1047_1049del (GDF1) | NP_001483.3:p.Phe350del | |
| NM_021267.4:c.*1316_*1318del (CERS1) | NP_067090.1:n.*1316_*1318del | |
| NM_001492.6:c.1047_1049del (GDF1) MANE Select | NP_001483.3:p.Phe350del | |
| NM_021267.5:c.*1316_*1318del (CERS1) MANE Select | NP_067090.1:n.*1316_*1318del | |
| NM_001387438.1:c.1047_1049del (GDF1) | NP_001374367.1:p.Phe350del | |
| NM_001387440.1:c.*1908_*1910del (CERS1) | NP_001374369.1:n.*1908_*1910del |