Linked Data
ClinVar Variation Id:
425286
ClinVar RCV Id:
RCV000487584
dbSNP Id:
rs1064797290
gnomAD v4:
22-50697711-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697713del , CM000684.2:g.50697713del | GRCh38 |
| NC_000022.10:g.51136141del , CM000684.1:g.51136141del | GRCh37 |
| NC_000022.9:g.49483007del | NCBI36 |
| NG_008607.2:g.28359del | |
| NG_070230.1:g.33578del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262795.7:c.1097del | ENSP00000489147.2:p.Lys366ArgfsTer15 | |
| ENST00000414786.7:n.1681del | ||
| ENST00000445220.7:c.149del | ENSP00000489407.2:p.Lys50ArgfsTer15 | |
| ENST00000673971.2:c.1454del | ENSP00000501192.1:p.Lys485ArgfsTer15 | |
| ENST00000445220.6:c.149del | ENSP00000489407.2:p.Lys50ArgfsTer15 | |
| ENST00000262795.6:c.1097del | ENSP00000489147.2:p.Lys366ArgfsTer15 | |
| ENST00000673971.1:c.1454del | ENSP00000501192.1:p.Lys485ArgfsTer15 | |
| ENST00000673995.1:c.150del | ||
| ENST00000262795.5:c.1493del | ENSP00000489147.1:p.Lys498ArgfsTer15 | |
| ENST00000414786.6:n.1681del | ||
| ENST00000445220.5:c.1475del | ENSP00000489407.1:p.Lys492ArgfsTer15 |