Linked Data
dbSNP Id:
rs1008320056
gnomAD v2:
15-48766636-CAAATT-C
gnomAD v3:
15-48474439-CAAATT-C
gnomAD v4:
15-48474439-CAAATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474443_48474447del , CM000677.2:g.48474443_48474447del | GRCh38 |
| NC_000015.9:g.48766640_48766644del , CM000677.1:g.48766640_48766644del | GRCh37 |
| NC_000015.8:g.46553932_46553936del | NCBI36 |
| NG_008805.2:g.176345_176349del , LRG_778:g.176345_176349del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4088-67_4088-63del | ENSP00000453958.2:n.4088-67_4088-63del | |
| ENST00000674301.2:c.4088-67_4088-63del | ENSP00000501333.2:n.4088-67_4088-63del | |
| ENST00000684448.1:n.2762-67_2762-63del | ||
| ENST00000316623.10:c.4088-67_4088-63del MANE Select | ENSP00000325527.5:n.4088-67_4088-63del | |
| ENST00000316623.9:c.4088-67_4088-63del | ENSP00000325527.5:n.4088-67_4088-63del | |
| ENST00000537463.6:c.760-67_760-63del | ENSP00000440294.2:n.760-67_760-63del | |
| NM_000138.4:c.4088-67_4088-63del , LRG_778t1:c.4088-67_4088-63del | NP_000129.3:n.4088-67_4088-63del | |
| NM_000138.5:c.4088-67_4088-63del MANE Select | NP_000129.3:n.4088-67_4088-63del |