Linked Data
dbSNP Id:
rs2052624372
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44960942_44960943del , CM000679.2:g.44960942_44960943del | GRCh38 |
| NC_000017.10:g.43038310_43038311del , CM000679.1:g.43038310_43038311del | GRCh37 |
| NC_000017.9:g.40393836_40393837del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253407.4:c.598-574_598-573del (C1QL1) MANE Select | ENSP00000253407.2:n.598-574_598-573del | |
| ENST00000678938.1:c.-110+2880_-110+2881del (NMT1) | ENSP00000503621.1:n.-110+2880_-110+2881del | |
| ENST00000253407.3:c.598-574_598-573del (C1QL1) | ENSP00000253407.2:n.598-574_598-573del | |
| NM_006688.4:c.598-574_598-573del (C1QL1) | NP_006679.1:n.598-574_598-573del | |
| NM_006688.5:c.598-574_598-573del (C1QL1) MANE Select | NP_006679.1:n.598-574_598-573del |