Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44960862_44960865del , CM000679.2:g.44960862_44960865del | GRCh38 |
| NC_000017.10:g.43038230_43038233del , CM000679.1:g.43038230_43038233del | GRCh37 |
| NC_000017.9:g.40393756_40393759del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253407.4:c.598-495_598-492del (C1QL1) MANE Select | ENSP00000253407.2:n.598-495_598-492del | |
| ENST00000678938.1:c.-110+2800_-110+2803del (NMT1) | ENSP00000503621.1:n.-110+2800_-110+2803del | |
| ENST00000253407.3:c.598-495_598-492del (C1QL1) | ENSP00000253407.2:n.598-495_598-492del | |
| NM_006688.4:c.598-495_598-492del (C1QL1) | NP_006679.1:n.598-495_598-492del | |
| NM_006688.5:c.598-495_598-492del (C1QL1) MANE Select | NP_006679.1:n.598-495_598-492del |