Linked Data
ClinVar Variation Id:
314621
ClinVar RCV Id:
RCV000393606
dbSNP Id:
rs140918232
gnomAD v2:
14-77975907-CAG-C
gnomAD v3:
14-77509564-CAG-C
gnomAD v4:
14-77509564-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77509567_77509568del , CM000676.2:g.77509567_77509568del | GRCh38 |
| NC_000014.8:g.77975910_77975911del , CM000676.1:g.77975910_77975911del | GRCh37 |
| NC_000014.7:g.77045663_77045664del | NCBI36 |
| NG_028282.1:g.112202_112203del , LRG_371:g.112202_112203del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.3439_3440del | ||
| ENST00000687688.1:n.4170_4171del | ||
| ENST00000692906.1:n.4139_4140del | ||
| ENST00000216484.7:c.*2718_*2719del MANE Select | ENSP00000216484.2:n.*2718_*2719del | |
| ENST00000216484.6:c.*2718_*2719del | ENSP00000216484.2:n.*2718_*2719del | |
| NM_004863.3:c.*2718_*2719del , LRG_371t1:c.*2718_*2719del | NP_004854.1:n.*2718_*2719del | |
| NM_004863.4:c.*2718_*2719del MANE Select | NP_004854.1:n.*2718_*2719del |