ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25563140_25563141delinsAC , CM000663.2:g.25563140_25563141delinsAC | GRCh38 |
| NC_000001.10:g.25889631_25889632delinsAC , CM000663.1:g.25889631_25889632delinsAC | GRCh37 |
| NC_000001.9:g.25762218_25762219delinsAC | NCBI36 |
| NG_008932.1:g.24556_24557delinsAC , LRG_276:g.24556_24557delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374338.5:c.603_604delinsAC MANE Select | ENSP00000363458.4:p.Ser202Pro | |
| ENST00000374338.4:c.603_604delinsAC | ENSP00000363458.4:p.Ser202Pro | |
| ENST00000484476.5:n.325_326delinsAC | ||
| ENST00000488127.1:n.1073_1074delinsAC | ||
| NM_015627.2:c.603_604delinsAC , LRG_276t1:c.603_604delinsAC | NP_056442.2:p.Ser202Pro | |
| XM_006710559.2:c.603_604delinsAC | XP_006710622.1:p.Ser202Pro | |
| XM_006710560.2:c.603_604delinsAC | XP_006710623.1:p.Ser202Pro | |
| XM_006710561.2:c.603_604delinsAC | XP_006710624.1:p.Ser202Pro | |
| XM_011541209.1:c.603_604delinsAC | XP_011539511.1:p.Ser202Pro | |
| XM_011541210.1:c.603_604delinsAC | XP_011539512.1:p.Ser202Pro | |
| XM_011541211.1:c.603_604delinsAC | XP_011539513.1:p.Ser202Pro | |
| XM_011541212.1:c.603_604delinsAC | XP_011539514.1:p.Ser202Pro | |
| XR_426598.2:n.722_723delinsAC | ||
| XR_946602.1:n.722_723delinsAC | ||
| XR_946603.1:n.722_723delinsAC | ||
| XM_006710559.4:c.603_604delinsAC | XP_006710622.1:p.Ser202Pro | |
| XM_006710560.4:c.603_604delinsAC | XP_006710623.1:p.Ser202Pro | |
| XM_006710561.4:c.603_604delinsAC | XP_006710624.1:p.Ser202Pro | |
| XM_011541209.3:c.603_604delinsAC | XP_011539511.1:p.Ser202Pro | |
| XM_011541210.3:c.603_604delinsAC | XP_011539512.1:p.Ser202Pro | |
| XM_011541211.3:c.603_604delinsAC | XP_011539513.1:p.Ser202Pro | |
| XM_011541212.3:c.603_604delinsAC | XP_011539514.1:p.Ser202Pro | |
| XM_017000994.2:c.522_523delinsAC | XP_016856483.1:p.Ser175Pro | |
| XM_017000995.2:c.459+5873_459+5874delinsAC | XP_016856484.1:n.459+5873_459+5874delinsAC | |
| XM_024446315.1:c.468_469delinsAC | XP_024302083.1:p.Ser157Pro | |
| XR_001737112.2:n.673_674delinsAC | ||
| XR_001737113.2:n.673_674delinsAC | ||
| XR_002956258.1:n.673_674delinsAC | ||
| XR_426598.4:n.673_674delinsAC | ||
| XR_946602.3:n.673_674delinsAC | ||
| XR_946603.3:n.673_674delinsAC | ||
| NM_015627.3:c.603_604delinsAC MANE Select | NP_056442.2:p.Ser202Pro |