Linked Data
gnomAD v4:
1-115732819-GAAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732821_115732823del , CM000663.2:g.115732821_115732823del | GRCh38 |
| NC_000001.10:g.116275442_116275444del , CM000663.1:g.116275442_116275444del | GRCh37 |
| NC_000001.9:g.116076965_116076967del | NCBI36 |
| NG_008802.1:g.40984_40986del , LRG_404:g.40984_40986del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.330+79_330+81del | ENSP00000518226.1:n.330+79_330+81del | |
| ENST00000261448.6:c.606+79_606+81del MANE Select | ENSP00000261448.5:n.606+79_606+81del | |
| ENST00000261448.5:c.606+79_606+81del | ENSP00000261448.5:n.606+79_606+81del | |
| ENST00000488931.1:n.27+79_27+81del | ||
| NM_001232.3:c.606+79_606+81del , LRG_404t1:c.606+79_606+81del | NP_001223.2:n.606+79_606+81del | |
| NM_001232.4:c.606+79_606+81del MANE Select | NP_001223.2:n.606+79_606+81del |