Linked Data
dbSNP Id:
rs2055179210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787866_18787899del , CM000681.2:g.18787866_18787899del | GRCh38 |
| NC_000019.9:g.18898675_18898708del , CM000681.1:g.18898675_18898708del | GRCh37 |
| NC_000019.8:g.18759675_18759708del | NCBI36 |
| NG_007070.1:g.8412_8445del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.976-244_976-211del MANE Select | ENSP00000222271.2:n.976-244_976-211del | |
| ENST00000222271.6:c.976-244_976-211del | ENSP00000222271.2:n.976-244_976-211del | |
| ENST00000425807.1:c.817-244_817-211del | ENSP00000403792.1:n.817-244_817-211del | |
| ENST00000542601.6:c.877-244_877-211del | ENSP00000439156.2:n.877-244_877-211del | |
| NM_000095.2:c.976-244_976-211del | NP_000086.2:n.976-244_976-211del | |
| NM_000095.3:c.976-244_976-211del MANE Select | NP_000086.2:n.976-244_976-211del |