Linked Data
dbSNP Id:
rs2055165524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786153_18786159del , CM000681.2:g.18786153_18786159del | GRCh38 |
| NC_000019.9:g.18896963_18896969del , CM000681.1:g.18896963_18896969del | GRCh37 |
| NC_000019.8:g.18757963_18757969del | NCBI36 |
| NG_007070.1:g.10148_10154del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1308-11_1308-5del MANE Select | ENSP00000222271.2:n.1308-11_1308-5del | |
| ENST00000222271.6:c.1308-11_1308-5del | ENSP00000222271.2:n.1308-11_1308-5del | |
| ENST00000425807.1:c.1149-11_1149-5del | ENSP00000403792.1:n.1149-11_1149-5del | |
| ENST00000542601.6:c.1209-11_1209-5del | ENSP00000439156.2:n.1209-11_1209-5del | |
| ENST00000612179.1:n.558-11_558-5del | ||
| NM_000095.2:c.1308-11_1308-5del | NP_000086.2:n.1308-11_1308-5del | |
| NM_000095.3:c.1308-11_1308-5del MANE Select | NP_000086.2:n.1308-11_1308-5del |