Linked Data
dbSNP Id:
rs1377765362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775147_94775148insA , CM000672.2:g.94775147_94775148insA | GRCh38 |
| NC_000010.10:g.96534904_96534905insA , CM000672.1:g.96534904_96534905insA | GRCh37 |
| NC_000010.9:g.96524894_96524895insA | NCBI36 |
| NG_008384.2:g.17442_17443insA | |
| NG_008384.3:g.17467_17468insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.258_259insA MANE Select | ENSP00000360372.3:p.Leu87ThrfsTer3 | |
| ENST00000645461.1:n.1311_1312insA | ||
| ENST00000371321.7:c.258_259insA | ENSP00000360372.3:p.Leu87ThrfsTer3 | |
| ENST00000464755.1:c.1021_1022insA | ENSP00000483243.1:n.1021_1022insA | |
| ENST00000480405.2:c.258_259insA | ENSP00000483847.1:p.Leu87ThrfsTer3 | |
| NM_000769.2:c.258_259insA | NP_000760.1:p.Leu87ThrfsTer3 | |
| NM_000769.4:c.258_259insA MANE Select | NP_000760.1:p.Leu87ThrfsTer3 |