Linked Data
dbSNP Id:
rs1721004316
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125320_55125321del , CM000666.2:g.55125320_55125321del | GRCh38 |
| NC_000004.11:g.55991487_55991488del , CM000666.1:g.55991487_55991488del | GRCh37 |
| NC_000004.10:g.55686244_55686245del | NCBI36 |
| NG_012004.1:g.5276_5277del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-27_-26del MANE Select | ENSP00000263923.4:n.-27_-26del | |
| ENST00000263923.4:c.-27_-26del | ENSP00000263923.4:n.-27_-26del | |
| NM_002253.2:c.-27_-26del | NP_002244.1:n.-27_-26del | |
| NM_002253.3:c.-27_-26del | NP_002244.1:n.-27_-26del | |
| NM_002253.4:c.-27_-26del MANE Select | NP_002244.1:n.-27_-26del |