Linked Data
dbSNP Id:
rs1361160791
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962901_42962909del , CM000666.2:g.42962901_42962909del | GRCh38 |
| NC_000004.11:g.42964918_42964926del , CM000666.1:g.42964918_42964926del | GRCh37 |
| NC_000004.10:g.42659675_42659683del | NCBI36 |
| NG_027718.1:g.74636_74644del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.394_402del MANE Select | ENSP00000382670.2:p.Thr132_Leu134del | |
| ENST00000399770.2:c.394_402del | ENSP00000382670.2:p.Thr132_Leu134del | |
| NM_001080476.2:c.394_402del | NP_001073945.1:p.Thr132_Leu134del | |
| XM_011513691.1:c.31_39del | XP_011511993.1:p.Thr11_Leu13del | |
| NM_001080476.3:c.394_402del MANE Select | NP_001073945.1:p.Thr132_Leu134del |