Linked Data
ClinVar Variation Id:
959965
dbSNP Id:
rs1555740288
gnomAD v4:
19-1226629-GGCCTGCAAGCAGCAGTGAGGCTGGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226637_1226662del , CM000681.2:g.1226637_1226662del | GRCh38 |
| NC_000019.9:g.1226636_1226661del , CM000681.1:g.1226636_1226661del | GRCh37 |
| NC_000019.8:g.1177636_1177661del | NCBI36 |
| NG_007460.2:g.42231_42256del , LRG_319:g.42231_42256del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2893_*2918del | ENSP00000490268.2:n.*2893_*2918del | |
| ENST00000585748.3:c.920_*15del | ENSP00000477641.2:n.[c.920_*15del;Lys307SerfsTer?] | |
| ENST00000585851.2:c.1118_*15del | ENSP00000467912.2:n.[c.1118_*15del;Lys373SerfsTer?] | |
| ENST00000326873.12:c.1292_*15del MANE Select | ENSP00000324856.6:n.[c.1292_*15del;Lys431SerfsTer?] | |
| ENST00000326873.11:c.1292_*15del | ENSP00000324856.6:n.[c.1292_*15del;Lys431SerfsTer?] | |
| ENST00000585465.2:n.3025_3050del | ||
| ENST00000586243.5:c.1289_*15del | ENSP00000467240.2:n.[c.1289_*15del;Lys430SerfsTer?] | |
| ENST00000589152.5:n.1990_2015del | ||
| NM_000455.4:c.1292_*15del , LRG_319t1:c.1292_*15del | NP_000446.1:n.[c.1292_*15del;Lys431SerfsTer?] | |
| XM_005259617.1:c.1287_1312del | XP_005259674.1:p.Ala430ProfsTer? | |
| XM_011528209.1:c.1065_1090del | XP_011526511.1:p.Ala356ProfsTer? | |
| XM_005259617.3:c.1287_1312del | XP_005259674.1:p.Ala430ProfsTer? | |
| XM_011528209.2:c.1065_1090del | XP_011526511.1:p.Ala356ProfsTer? | |
| XR_001753738.2:n.2098_2123del | ||
| XR_001753740.2:n.2068_2093del | ||
| NM_000455.5:c.1292_*15del MANE Select | NP_000446.1:n.[c.1292_*15del;Lys431SerfsTer?] |