ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39504071_39504072delinsCA , CM000681.2:g.39504071_39504072delinsCA | GRCh38 |
| NC_000019.9:g.39994711_39994712delinsCA , CM000681.1:g.39994711_39994712delinsCA | GRCh37 |
| NC_000019.8:g.44686551_44686552delinsCA | NCBI36 |
| NG_008256.1:g.10155_10156delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.653_654delinsCA MANE Select | ENSP00000348810.4:p.Leu218Pro | |
| ENST00000205143.4:c.653_654delinsCA | ENSP00000205143.3:p.Leu218Pro | |
| ENST00000356433.9:c.653_654delinsCA | ENSP00000348810.4:p.Leu218Pro | |
| ENST00000596614.5:c.410-2968_410-2967delinsCA | ENSP00000471688.1:n.410-2968_410-2967delinsCA | |
| ENST00000600437.1:n.733_734delinsCA | ||
| NM_016941.3:c.653_654delinsCA | NP_058637.1:p.Leu218Pro | |
| NM_203486.2:c.653_654delinsCA | NP_982353.1:p.Leu218Pro | |
| NM_016941.4:c.653_654delinsCA | NP_058637.1:p.Leu218Pro | |
| NM_203486.3:c.653_654delinsCA MANE Select | NP_982353.1:p.Leu218Pro |