Linked Data
dbSNP Id:
rs2069999040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957699_19957701del , CM000670.2:g.19957699_19957701del | GRCh38 |
| NC_000008.10:g.19815210_19815212del , CM000670.1:g.19815210_19815212del | GRCh37 |
| NC_000008.9:g.19859490_19859492del | NCBI36 |
| NG_008855.1:g.23629_23631del | |
| NG_008855.2:g.60983_60985del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1019-1561_1019-1559del MANE Select | ENSP00000497642.1:n.1019-1561_1019-1559de... | |
| ENST00000650478.1:c.79+1616_79+1618del | ENSP00000497560.1:n.79+1616_79+1618del | |
| ENST00000311322.8:c.1019-1561_1019-1559del | ENSP00000309757.6:n.1019-1561_1019-1559de... | |
| NM_000237.2:c.1019-1561_1019-1559del | NP_000228.1:n.1019-1561_1019-1559del | |
| NM_000237.3:c.1019-1561_1019-1559del MANE Select | NP_000228.1:n.1019-1561_1019-1559del |