Linked Data
dbSNP Id:
rs758333969
ExAC:
21:36259232 CCG / C
gnomAD v2:
21-36259232-CCG-C
gnomAD v4:
21-34886935-CCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34886936_34886937del , CM000683.2:g.34886936_34886937del | GRCh38 |
| NC_000021.8:g.36259233_36259234del , CM000683.1:g.36259233_36259234del | GRCh37 |
| NC_000021.7:g.35181103_35181104del | NCBI36 |
| NG_011402.2:g.1102775_1102776del , LRG_482:g.1102775_1102776del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.257_258del MANE Select | ENSP00000501943.1:p.Pro86ArgfsTer? | |
| ENST00000300305.7:c.257_258del | ENSP00000300305.3:p.Pro86ArgfsTer? | |
| ENST00000344691.8:c.176_177del | ENSP00000340690.4:p.Pro59ArgfsTer? | |
| ENST00000358356.9:c.176_177del | ENSP00000351123.5:p.Pro59ArgfsTer? | |
| ENST00000399237.6:c.221_222del | ENSP00000382182.2:p.Pro74ArgfsTer? | |
| ENST00000399240.5:c.176_177del | ENSP00000382184.1:p.Pro59ArgfsTer? | |
| ENST00000437180.5:c.257_258del | ENSP00000409227.1:p.Pro86ArgfsTer? | |
| ENST00000455571.5:c.218_219del | ENSP00000388189.1:p.Pro73ArgfsTer? | |
| ENST00000482318.5:c.59-6224_59-6223del | ENSP00000477067.1:n.59-6224_59-6223del | |
| NM_001001890.2:c.176_177del | NP_001001890.1:p.Pro59ArgfsTer? | |
| NM_001122607.1:c.176_177del | NP_001116079.1:p.Pro59ArgfsTer? | |
| NM_001754.4:c.257_258del , LRG_482t1:c.257_258del | NP_001745.2:p.Pro86ArgfsTer? | |
| XM_005261068.3:c.221_222del | XP_005261125.1:p.Pro74ArgfsTer? | |
| XM_005261069.3:c.257_258del | XP_005261126.1:p.Pro86ArgfsTer? | |
| XM_011529766.1:c.257_258del | XP_011528068.1:p.Pro86ArgfsTer? | |
| XM_011529767.1:c.218_219del | XP_011528069.1:p.Pro73ArgfsTer? | |
| XM_011529768.1:c.218_219del | XP_011528070.1:p.Pro73ArgfsTer? | |
| XM_011529770.1:c.257_258del | XP_011528072.1:p.Pro86ArgfsTer? | |
| XR_937576.1:n.436_437del | ||
| XM_005261069.4:c.257_258del | XP_005261126.1:p.Pro86ArgfsTer? | |
| XM_011529766.2:c.257_258del | XP_011528068.1:p.Pro86ArgfsTer? | |
| XM_011529767.2:c.218_219del | XP_011528069.1:p.Pro73ArgfsTer? | |
| XM_011529768.2:c.218_219del | XP_011528070.1:p.Pro73ArgfsTer? | |
| XM_011529770.2:c.257_258del | XP_011528072.1:p.Pro86ArgfsTer? | |
| XM_017028487.1:c.104_105del | XP_016883976.1:p.Pro35ArgfsTer? | |
| XR_937576.2:n.483_484del | ||
| NM_001001890.3:c.176_177del | NP_001001890.1:p.Pro59ArgfsTer? | |
| NM_001122607.2:c.176_177del | NP_001116079.1:p.Pro59ArgfsTer? | |
| NM_001754.5:c.257_258del MANE Select | NP_001745.2:p.Pro86ArgfsTer? |