Linked Data
dbSNP Id:
rs1408466999
gnomAD v2:
7-55095179-AAACCTGGAATGTCAAAGATAAAGTGC-A
gnomAD v3:
7-55027486-AAACCTGGAATGTCAAAGATAAAGTGC-A
gnomAD v4:
7-55027486-AAACCTGGAATGTCAAAGATAAAGTGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55027490_55027515del , CM000669.2:g.55027490_55027515del | GRCh38 |
| NC_000007.13:g.55095183_55095208del , CM000669.1:g.55095183_55095208del | GRCh37 |
| NC_000007.12:g.55062677_55062702del | NCBI36 |
| NG_007726.3:g.13459_13484del , LRG_304:g.13459_13484del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000459688.2:n.235+8125_235+8150del | ||
| ENST00000700144.1:n.278+8125_278+8150del | ||
| ENST00000344576.7:c.88+8125_88+8150del | ENSP00000345973.2:n.88+8125_88+8150del | |
| ENST00000275493.7:c.88+8125_88+8150del MANE Select | ENSP00000275493.2:n.88+8125_88+8150del | |
| ENST00000275493.6:c.88+8125_88+8150del | ENSP00000275493.2:n.88+8125_88+8150del | |
| ENST00000342916.7:c.88+8125_88+8150del | ENSP00000342376.3:n.88+8125_88+8150del | |
| ENST00000344576.6:c.88+8125_88+8150del | ENSP00000345973.2:n.88+8125_88+8150del | |
| ENST00000420316.6:c.88+8125_88+8150del | ENSP00000413843.2:n.88+8125_88+8150del | |
| ENST00000442591.5:c.88+8125_88+8150del | ENSP00000410031.1:n.88+8125_88+8150del | |
| ENST00000454757.6:c.88+8125_88+8150del | ENSP00000395243.3:n.88+8125_88+8150del | |
| ENST00000455089.5:c.88+8125_88+8150del | ENSP00000415559.1:n.88+8125_88+8150del | |
| ENST00000459688.1:n.235+8125_235+8150del | ||
| ENST00000463948.1:n.215+8125_215+8150del | ||
| NM_005228.3:c.88+8125_88+8150del , LRG_304t1:c.88+8125_88+8150del | NP_005219.2:n.88+8125_88+8150del | |
| NM_201282.1:c.88+8125_88+8150del | NP_958439.1:n.88+8125_88+8150del | |
| NM_201283.1:c.88+8125_88+8150del | NP_958440.1:n.88+8125_88+8150del | |
| NM_201284.1:c.88+8125_88+8150del | NP_958441.1:n.88+8125_88+8150del | |
| NM_001346897.1:c.88+8125_88+8150del | NP_001333826.1:n.88+8125_88+8150del | |
| NM_001346898.1:c.88+8125_88+8150del | NP_001333827.1:n.88+8125_88+8150del | |
| NM_001346899.1:c.88+8125_88+8150del | NP_001333828.1:n.88+8125_88+8150del | |
| NM_001346941.1:c.88+8125_88+8150del | NP_001333870.1:n.88+8125_88+8150del | |
| NM_005228.4:c.88+8125_88+8150del | NP_005219.2:n.88+8125_88+8150del | |
| NM_005228.5:c.88+8125_88+8150del MANE Select | NP_005219.2:n.88+8125_88+8150del | |
| NM_001346897.2:c.88+8125_88+8150del | NP_001333826.1:n.88+8125_88+8150del | |
| NM_001346898.2:c.88+8125_88+8150del | NP_001333827.1:n.88+8125_88+8150del | |
| NM_001346941.2:c.88+8125_88+8150del | NP_001333870.1:n.88+8125_88+8150del | |
| NM_201282.2:c.88+8125_88+8150del | NP_958439.1:n.88+8125_88+8150del | |
| NM_201284.2:c.88+8125_88+8150del | NP_958441.1:n.88+8125_88+8150del | |
| NM_001346899.2:c.88+8125_88+8150del | NP_001333828.1:n.88+8125_88+8150del | |
| NM_201283.2:c.88+8125_88+8150del | NP_958440.1:n.88+8125_88+8150del |