Linked Data
dbSNP Id:
rs1642209661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535820_1535831del , CM000663.2:g.1535820_1535831del | GRCh38 |
| NC_000001.10:g.1471200_1471211del , CM000663.1:g.1471200_1471211del | GRCh37 |
| NC_000001.9:g.1461063_1461074del | NCBI36 |
| NG_041807.1:g.9531_9542del | |
| NG_053035.1:g.28678_28689del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.165-33_165-22del MANE Select | ENSP00000368007.4:n.165-33_165-22del | |
| ENST00000378733.8:c.165-33_165-22del | ENSP00000368007.4:n.165-33_165-22del | |
| ENST00000425828.1:c.165-33_165-22del | ENSP00000400311.1:n.165-33_165-22del | |
| NM_001114748.1:c.165-33_165-22del | NP_001108220.1:n.165-33_165-22del | |
| NM_001114748.2:c.165-33_165-22del MANE Select | NP_001108220.1:n.165-33_165-22del |