Linked Data
dbSNP Id:
rs2077505016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135787999_135788008del , CM000664.2:g.135787999_135788008del | GRCh38 |
| NC_000002.11:g.136545569_136545578del , CM000664.1:g.136545569_136545578del | GRCh37 |
| NC_000002.10:g.136262039_136262048del | NCBI36 |
| NG_008104.2:g.72173_72182del , LRG_338:g.72173_72182del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.*327_*336del MANE Select | ENSP00000264162.2:n.*327_*336del | |
| ENST00000264162.6:c.*327_*336del | ENSP00000264162.2:n.*327_*336del | |
| NM_002299.2:c.*327_*336del , LRG_338t1:c.*327_*336del | NP_002290.2:n.*327_*336del | |
| NM_002299.3:c.*327_*336del | NP_002290.2:n.*327_*336del | |
| NM_002299.4:c.*327_*336del MANE Select | NP_002290.2:n.*327_*336del |