Linked Data
dbSNP Id:
rs1481635994
gnomAD v2:
18-29104608-AT-A
gnomAD v3:
18-31524645-AT-A
gnomAD v4:
18-31524645-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524646del , CM000680.2:g.31524646del | GRCh38 |
| NC_000018.9:g.29104609del , CM000680.1:g.29104609del | GRCh37 |
| NC_000018.8:g.27358607del | NCBI36 |
| NG_007072.3:g.31405del , LRG_397:g.31405del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.660-57del | ||
| ENST00000683614.2:n.660-57del | ||
| ENST00000682087.1:c.660-57del | ||
| ENST00000683614.1:c.660-57del | ||
| ENST00000261590.13:c.829-57del MANE Select | ENSP00000261590.8:n.829-57del | |
| ENST00000261590.12:c.829-57del | ENSP00000261590.8:n.829-57del | |
| NM_001943.3:c.829-57del , LRG_397t1:c.829-57del | NP_001934.2:n.829-57del | |
| NM_001943.4:c.829-57del | NP_001934.2:n.829-57del | |
| XM_024451095.1:c.295-57del | XP_024306863.1:n.295-57del | |
| NM_001943.5:c.829-57del MANE Select | NP_001934.2:n.829-57del |