Linked Data
dbSNP Id:
rs2100237509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17118383del , CM000663.2:g.17118383del | GRCh38 |
| NC_000001.10:g.17444878del , CM000663.1:g.17444878del | GRCh37 |
| NC_000001.9:g.17317465del | NCBI36 |
| NG_033958.1:g.6071del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375486.9:c.92+897del MANE Select | ENSP00000364635.4:n.92+897del | |
| ENST00000375481.1:c.92+897del | ENSP00000364630.1:n.92+897del | |
| ENST00000375486.8:c.92+897del | ENSP00000364635.4:n.92+897del | |
| NM_007365.2:c.92+897del | NP_031391.2:n.92+897del | |
| XM_011540549.1:c.92+897del | XP_011538851.1:n.92+897del | |
| XR_947004.1:n.4959del | ||
| XR_001736944.1:n.174+897del | ||
| NM_007365.3:c.92+897del MANE Select | NP_031391.2:n.92+897del |