Linked Data
gnomAD v3:
20-63350731-G-GTGGTCGCCGTATCATTAAAAAAGT
gnomAD v4:
20-63350731-G-GTGGTCGCCGTATCATTAAAAAAGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350731_63350732insTGGTCGCCGTATCATTAAAAAAGT , CM000682.2:g.63350731_63350732insTGGTCGCCGTATCATTAAAAAAGT | GRCh38 |
| NC_000020.10:g.61982083_61982084insTGGTCGCCGTATCATTAAAAAAGT , CM000682.1:g.61982083_61982084insTGGTCGCCGTATCATTAAAAAAGT | GRCh37 |
| NC_000020.9:g.61452527_61452528insTGGTCGCCGTATCATTAAAAAAGT | NCBI36 |
| NG_011931.1:g.15612_15613insACTTTTTTAATGATACGGCGACCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.679_680insACTTTTTTAATGATACGGCGACCA MANE Select | ENSP00000359285.4:p.Ala227delinsAspPhePheAsnAspThrAlaThrThr | |
| ENST00000370263.8:c.679_680insACTTTTTTAATGATACGGCGACCA | ENSP00000359285.4:p.Ala227delinsAspPhePheAsnAspThrAlaThrThr | |
| ENST00000463705.5:n.1327_1328insACTTTTTTAATGATACGGCGACCA | ||
| ENST00000467563.3:n.749_750insACTTTTTTAATGATACGGCGACCA | ||
| ENST00000498043.6:c.703_704insACTTTTTTAATGATACGGCGACCA | ||
| ENST00000615287.4:c.466_467insACTTTTTTAATGATACGGCGACCA | ENSP00000483388.1:p.Ala156delinsAspPhePheAsnAspThrAlaThrThr | |
| ENST00000627000.1:c.*368_*369insACTTTTTTAATGATACGGCGACCA | ENSP00000486914.1:n.*368_*369insACTTTTTTAATGATACGGCGACCA | |
| ENST00000630240.1:n.400_401insACTTTTTTAATGATACGGCGACCA | ||
| NM_000744.6:c.679_680insACTTTTTTAATGATACGGCGACCA | NP_000735.1:p.Ala227delinsAspPhePheAsnAspThrAlaThrThr | |
| NM_001256573.1:c.151_152insACTTTTTTAATGATACGGCGACCA | NP_001243502.1:p.Ala51delinsAspPhePheAsnAspThrAlaThrThr | |
| NR_046317.1:n.935_936insACTTTTTTAATGATACGGCGACCA | ||
| XM_011528524.1:c.466_467insACTTTTTTAATGATACGGCGACCA | XP_011526826.1:p.Ala156delinsAspPhePheAsnAspThrAlaThrThr | |
| XM_017027625.2:c.151_152insACTTTTTTAATGATACGGCGACCA | XP_016883114.1:p.Ala51delinsAspPhePheAsnAspThrAlaThrThr | |
| XM_024451822.1:c.151_152insACTTTTTTAATGATACGGCGACCA | XP_024307590.1:p.Ala51delinsAspPhePheAsnAspThrAlaThrThr | |
| NM_001256573.2:c.151_152insACTTTTTTAATGATACGGCGACCA | NP_001243502.1:p.Ala51delinsAspPhePheAsnAspThrAlaThrThr | |
| NR_046317.2:n.888_889insACTTTTTTAATGATACGGCGACCA | ||
| NM_000744.7:c.679_680insACTTTTTTAATGATACGGCGACCA MANE Select | NP_000735.1:p.Ala227delinsAspPhePheAsnAspThrAlaThrThr |