Linked Data
dbSNP Id:
rs2145902757
gnomAD v3:
19-18787878-CTTTCTTTCTTT-C
gnomAD v4:
19-18787878-CTTTCTTTCTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787879_18787889del , CM000681.2:g.18787879_18787889del | GRCh38 |
| NC_000019.9:g.18898688_18898698del , CM000681.1:g.18898688_18898698del | GRCh37 |
| NC_000019.8:g.18759688_18759698del | NCBI36 |
| NG_007070.1:g.8417_8427del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.976-239_976-229del MANE Select | ENSP00000222271.2:n.976-239_976-229del | |
| ENST00000222271.6:c.976-239_976-229del | ENSP00000222271.2:n.976-239_976-229del | |
| ENST00000425807.1:c.817-239_817-229del | ENSP00000403792.1:n.817-239_817-229del | |
| ENST00000542601.6:c.877-239_877-229del | ENSP00000439156.2:n.877-239_877-229del | |
| NM_000095.2:c.976-239_976-229del | NP_000086.2:n.976-239_976-229del | |
| NM_000095.3:c.976-239_976-229del MANE Select | NP_000086.2:n.976-239_976-229del |