Linked Data
dbSNP Id:
rs1313492319
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255450_133255451del , CM000671.2:g.133255450_133255451del | GRCh38 |
| NC_000009.11:g.136130837_136130838del , CM000671.1:g.136130837_136130838del | GRCh37 |
| NC_000009.10:g.135120658_135120659del | NCBI36 |
| NG_006669.1:g.22219_22220del | |
| NG_006669.2:g.24767_24768del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1311_1312del | ||
| ENST00000647353.1:n.54-4297_54-4296del | ||
| ENST00000679909.1:c.28+19713_28+19714del | ENSP00000506089.1:n.28+19713_28+19714del | |
| ENST00000453660.3:n.1293_1294del | ||
| ENST00000611156.4:c.*217_*218del | ENSP00000483265.1:n.*217_*218del | |
| NM_020469.2:c.*217_*218del | NP_065202.2:n.*217_*218del | |
| NM_020469.3:c.*217_*218del | NP_065202.2:n.*217_*218del |