Linked Data
dbSNP Id:
rs753949363
ExAC:
1:116275586 GC / G
gnomAD v3:
1-115732965-GC-G
gnomAD v4:
1-115732965-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732967del , CM000663.2:g.115732967del | GRCh38 |
| NC_000001.10:g.116275588del , CM000663.1:g.116275588del | GRCh37 |
| NC_000001.9:g.116077111del | NCBI36 |
| NG_008802.1:g.40840del , LRG_404:g.40840del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.265del | ENSP00000518226.1:p.Ala89LeufsTer29 | |
| ENST00000261448.6:c.541del MANE Select | ENSP00000261448.5:p.Ala181LeufsTer29 | |
| ENST00000261448.5:c.541del | ENSP00000261448.5:p.Ala181LeufsTer29 | |
| NM_001232.3:c.541del , LRG_404t1:c.541del | NP_001223.2:p.Ala181LeufsTer29 | |
| NM_001232.4:c.541del MANE Select | NP_001223.2:p.Ala181LeufsTer29 |