Linked Data
gnomAD v4:
18-31524772-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524775del , CM000680.2:g.31524775del | GRCh38 |
| NC_000018.9:g.29104738del , CM000680.1:g.29104738del | GRCh37 |
| NC_000018.8:g.27358736del | NCBI36 |
| NG_007072.3:g.31534del , LRG_397:g.31534del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.732del | ||
| ENST00000683614.2:n.732del | ||
| ENST00000682087.1:c.732del | ||
| ENST00000683614.1:c.732del | ||
| ENST00000261590.13:c.901del MANE Select | ENSP00000261590.8:p.Ile301Ter | |
| ENST00000261590.12:c.901del | ENSP00000261590.8:p.Ile301Ter | |
| NM_001943.3:c.901del , LRG_397t1:c.901del | NP_001934.2:p.Ile301Ter | |
| NM_001943.4:c.901del | NP_001934.2:p.Ile301Ter | |
| XM_024451095.1:c.367del | XP_024306863.1:p.Ile123Ter | |
| NM_001943.5:c.901del MANE Select | NP_001934.2:p.Ile301Ter |