Linked Data
ClinVar Variation Id:
2679402
ClinVar RCV Id:
RCV003464759
gnomAD v4:
22-50529489-CACGCACCGATCTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50529490_50529503del , CM000684.2:g.50529490_50529503del | GRCh38 |
| NC_000022.10:g.50967919_50967932del , CM000684.1:g.50967919_50967932del | GRCh37 |
| NC_000022.9:g.49314785_49314798del | NCBI36 |
| NG_011860.1:g.5583_5596del , LRG_727:g.5583_5596del | |
| NG_016235.1:g.1937_1950del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.207_214+6del | ||
| ENST00000395680.6:c.207_214+6del | ||
| ENST00000395681.6:c.207_214+6del | ||
| ENST00000650719.1:c.207_214+6del | ||
| ENST00000651095.1:n.346_353+6del | ||
| ENST00000651196.1:c.207_214+6del | ||
| ENST00000651401.1:c.-1+401_-1+414del | ENSP00000499115.1:n.-1+401_-1+414del | |
| ENST00000651906.1:n.326_333+6del | ||
| ENST00000652237.1:n.326_339del | ||
| ENST00000252029.7:c.207_214+6del | ||
| ENST00000395678.7:c.207_214+6del | ||
| ENST00000395680.5:c.207_214+6del | ||
| ENST00000395681.5:c.207_214+6del | ||
| ENST00000425169.1:c.207_214+6del | ||
| ENST00000476284.1:n.332_339+6del | ||
| ENST00000487162.1:n.338_351del | ||
| ENST00000487577.5:n.494_501+6del | ||
| NM_001113755.2:c.207_214+6del | ||
| NM_001113756.2:c.207_214+6del | ||
| NM_001257988.1:c.207_214+6del , LRG_727t1:c.207_214+6del | ||
| NM_001257989.1:c.207_214+6del , LRG_727t2:c.207_214+6del | ||
| NM_001953.4:c.207_214+6del | ||
| NM_001113755.3:c.207_214+6del | ||
| NM_001113756.3:c.207_214+6del | ||
| NM_001953.5:c.207_214+6del |