Linked Data
dbSNP Id:
rs2133583162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763944_763945insCCCAA , CM000673.2:g.763944_763945insCCCAA | GRCh38 |
| NC_000011.9:g.763944_763945insCCCAA , CM000673.1:g.763944_763945insCCCAA | GRCh37 |
| NC_000011.8:g.753944_753945insCCCAA | NCBI36 |
| NG_008160.1:g.21513_21514insCCCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319006.8:c.835_835+1insCCCAA MANE Select | ENSP00000321259.3:n.835_835+1insCCCAA | |
| ENST00000319006.7:c.835_835+1insCCCAA | ENSP00000321259.3:n.835_835+1insCCCAA | |
| ENST00000528097.5:c.831+4_831+5insCCCAA | ENSP00000437098.1:n.831+4_831+5insCCCAA | |
| NM_006755.1:c.835_835+1insCCCAA | NP_006746.1:n.835_835+1insCCCAA | |
| NM_006755.2:c.835_835+1insCCCAA MANE Select | NP_006746.1:n.835_835+1insCCCAA |