Linked Data
ClinVar Variation Id:
2998612
ClinVar RCV Id:
RCV003859259
dbSNP Id:
rs1562132733
gnomAD v2:
6-64694515-CA-C
gnomAD v4:
6-63984622-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63984628del , CM000668.2:g.63984628del | GRCh38 |
| NC_000006.11:g.64694521del , CM000668.1:g.64694521del | GRCh37 |
| NC_000006.10:g.64752480del | NCBI36 |
| NG_023443.1:g.1727603del | |
| NG_023443.2:g.1727603del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.6835-20del MANE Select | ENSP00000424243.1:n.6835-20del | |
| ENST00000370616.6:c.6835-20del | ENSP00000359650.2:n.6835-20del | |
| ENST00000370618.7:c.6835-20del | ENSP00000359652.4:n.6835-20del | |
| ENST00000370621.7:c.6835-20del | ENSP00000359655.3:n.6835-20del | |
| ENST00000398580.3:c.149-20del | ||
| ENST00000503581.5:c.6835-20del | ENSP00000424243.1:n.6835-20del | |
| NM_001142800.1:c.6835-20del | NP_001136272.1:n.6835-20del | |
| NM_001292009.1:c.6835-20del | NP_001278938.1:n.6835-20del | |
| XR_001744188.1:n.606+16344del | ||
| XR_001744189.1:n.129+16344del | ||
| XR_001744190.1:n.197+16344del | ||
| XR_001744191.1:n.607-1026del | ||
| NM_001142800.2:c.6835-20del MANE Select | NP_001136272.1:n.6835-20del | |
| NM_001292009.2:c.6835-20del | NP_001278938.1:n.6835-20del |