Linked Data
dbSNP Id:
rs1399665590
gnomAD v2:
4-122614814-GCAAAGCAGC-G
gnomAD v3:
4-121693659-GCAAAGCAGC-G
gnomAD v4:
4-121693659-GCAAAGCAGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121693663_121693671del , CM000666.2:g.121693663_121693671del | GRCh38 |
| NC_000004.11:g.122614818_122614826del , CM000666.1:g.122614818_122614826del | GRCh37 |
| NC_000004.10:g.122834268_122834276del | NCBI36 |
| NG_032042.1:g.8325_8333del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.9+2913_9+2921del MANE Select | ENSP00000296511.5:n.9+2913_9+2921del | |
| ENST00000296511.9:c.9+2913_9+2921del | ENSP00000296511.5:n.9+2913_9+2921del | |
| ENST00000501272.6:c.9+2913_9+2921del | ENSP00000424106.1:n.9+2913_9+2921del | |
| ENST00000506395.5:c.9+2913_9+2921del | ENSP00000421421.1:n.9+2913_9+2921del | |
| ENST00000509016.5:n.130+3195_130+3203del | ||
| ENST00000511552.5:n.395+2913_395+2921del | ||
| ENST00000513428.5:n.174+2913_174+2921del | ||
| ENST00000513523.1:n.177+2913_177+2921del | ||
| ENST00000513728.1:c.9+2913_9+2921del | ENSP00000427135.1:n.9+2913_9+2921del | |
| ENST00000515017.5:c.9+2913_9+2921del | ENSP00000424199.1:n.9+2913_9+2921del | |
| NM_001154.3:c.9+2913_9+2921del | NP_001145.1:n.9+2913_9+2921del | |
| XM_017008141.2:c.9+2913_9+2921del | XP_016863630.1:n.9+2913_9+2921del | |
| NM_001154.4:c.9+2913_9+2921del MANE Select | NP_001145.1:n.9+2913_9+2921del |