Linked Data
dbSNP Id:
rs1565554497
gnomAD v2:
11-128786178-CAGATGACTGGATGGATGGATGGATGGAT-C
gnomAD v3:
11-128916283-CAGATGACTGGATGGATGGATGGATGGAT-C
gnomAD v4:
11-128916283-CAGATGACTGGATGGATGGATGGATGGAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128916289_128916316del , CM000673.2:g.128916289_128916316del | GRCh38 |
| NC_000011.9:g.128786184_128786211del , CM000673.1:g.128786184_128786211del | GRCh37 |
| NC_000011.8:g.128291394_128291421del | NCBI36 |
| NG_023406.2:g.29872_29899del , LRG_333:g.29872_29899del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.938-120_938-93del MANE Select | ENSP00000433295.1:n.938-120_938-93del | |
| ENST00000338350.4:c.938-120_938-93del | ENSP00000339960.4:n.938-120_938-93del | |
| ENST00000529694.5:c.938-120_938-93del | ENSP00000433295.1:n.938-120_938-93del | |
| ENST00000533599.1:c.938-120_938-93del | ENSP00000434266.1:n.938-120_938-93del | |
| NM_000890.3:c.938-120_938-93del , LRG_333t1:c.938-120_938-93del | NP_000881.3:n.938-120_938-93del | |
| XM_011542809.1:c.938-120_938-93del | XP_011541111.1:n.938-120_938-93del | |
| XM_011542810.1:c.938-120_938-93del | XP_011541112.1:n.938-120_938-93del | |
| NM_000890.4:c.938-120_938-93del | NP_000881.3:n.938-120_938-93del | |
| NM_001354169.1:c.938-120_938-93del | NP_001341098.1:n.938-120_938-93del | |
| XM_011542809.2:c.938-120_938-93del | XP_011541111.1:n.938-120_938-93del | |
| XM_011542810.3:c.938-120_938-93del | XP_011541112.1:n.938-120_938-93del | |
| NM_000890.5:c.938-120_938-93del MANE Select | NP_000881.3:n.938-120_938-93del | |
| NM_001354169.2:c.938-120_938-93del | NP_001341098.1:n.938-120_938-93del |