Linked Data
dbSNP Id:
rs2090796261
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960361_47960364del , CM000670.2:g.47960361_47960364del | GRCh38 |
| NC_000008.10:g.48872921_48872924del , CM000670.1:g.48872921_48872924del | GRCh37 |
| NC_000008.9:g.49035474_49035477del | NCBI36 |
| NG_023435.1:g.4826_4829del , LRG_162:g.4826_4829del | |
| NG_032967.1:g.5159_5162del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+41_-15+44del | ENSP00000430329.1:n.-15+41_-15+44del | |
| NM_005914.3:c.-784_-781del | NP_005905.2:n.-784_-781del | |
| NM_182746.2:c.-668_-665del | NP_877423.1:n.-668_-665del | |
| XM_005251234.1:c.-1030_-1027del | XP_005251291.1:n.-1030_-1027del |