Linked Data
dbSNP Id:
rs979551397
gnomAD v3:
21-31660079-TGCGCGTGGCGGGA-T
gnomAD v4:
21-31660079-TGCGCGTGGCGGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31660085_31660097del , CM000683.2:g.31660085_31660097del | GRCh38 |
| NC_000021.8:g.33032398_33032410del , CM000683.1:g.33032398_33032410del | GRCh37 |
| NC_000021.7:g.31954269_31954281del | NCBI36 |
| NG_008689.1:g.5464_5476del , LRG_652:g.5464_5476del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+244_72+256del MANE Select | ENSP00000270142.7:n.72+244_72+256del | |
| ENST00000270142.10:c.72+244_72+256del | ENSP00000270142.6:n.72+244_72+256del | |
| ENST00000389995.4:c.15+301_15+313del | ENSP00000374645.4:n.15+301_15+313del | |
| ENST00000470944.1:n.377_389del | ||
| ENST00000476106.5:n.149+244_149+256del | ||
| NM_000454.4:c.72+244_72+256del , LRG_652t1:c.72+244_72+256del | NP_000445.1:n.72+244_72+256del | |
| NM_000454.5:c.72+244_72+256del MANE Select | NP_000445.1:n.72+244_72+256del |