Linked Data
ClinVar Variation Id:
3019239
ClinVar RCV Id:
RCV003871870
dbSNP Id:
rs747989822
ExAC:
2:211473291 CT / C
gnomAD v2:
2-211473291-CT-C
gnomAD v4:
2-210608567-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210608569del , CM000664.2:g.210608569del | GRCh38 |
| NC_000002.11:g.211473293del , CM000664.1:g.211473293del | GRCh37 |
| NC_000002.10:g.211181538del | NCBI36 |
| NG_008285.1:g.135885del , LRG_336:g.135885del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.2391+10del MANE Select | ENSP00000233072.5:n.2391+10del | |
| ENST00000430249.7:c.2409+10del | ENSP00000402608.2:n.2409+10del | |
| ENST00000451903.3:c.1038+10del | ENSP00000406136.2:n.1038+10del | |
| ENST00000673510.1:c.2391+10del | ENSP00000500537.1:n.2391+10del | |
| ENST00000673630.1:c.2391+10del | ENSP00000501073.1:n.2391+10del | |
| ENST00000673698.1:c.871+10del | ||
| ENST00000673711.1:c.2391+10del | ENSP00000501022.1:n.2391+10del | |
| ENST00000674074.1:n.1536+10del | ||
| ENST00000233072.9:c.2391+10del | ENSP00000233072.5:n.2391+10del | |
| ENST00000430249.6:c.2409+10del | ENSP00000402608.2:n.2409+10del | |
| ENST00000451903.2:c.1038+10del | ENSP00000406136.2:n.1038+10del | |
| NM_001122633.2:c.2409+10del | NP_001116105.1:n.2409+10del | |
| NM_001122634.3:c.1038+10del | NP_001116106.1:n.1038+10del | |
| NM_001875.4:c.2391+10del , LRG_336t1:c.2391+10del | NP_001866.2:n.2391+10del | |
| XM_011510640.1:c.2424+10del | XP_011508942.1:n.2424+10del | |
| XM_011510641.1:c.2391+10del | XP_011508943.1:n.2391+10del | |
| XM_011510642.1:c.2391+10del | XP_011508944.1:n.2391+10del | |
| XM_011510643.1:c.2391+10del | XP_011508945.1:n.2391+10del | |
| XM_011510644.1:c.2391+10del | XP_011508946.1:n.2391+10del | |
| NM_001122633.3:c.2391+10del | NP_001116105.2:n.2391+10del | |
| NM_001369256.1:c.2424+10del | NP_001356185.1:n.2424+10del | |
| NM_001369257.1:c.2391+10del | NP_001356186.1:n.2391+10del | |
| NM_001875.5:c.2391+10del MANE Select | NP_001866.2:n.2391+10del | |
| NR_161225.1:n.3300+10del | ||
| NR_163592.1:n.1547+10del |