Linked Data
dbSNP Id:
rs898953435
gnomAD v3:
5-111118724-GAGAAAAAC-G
gnomAD v4:
5-111118724-GAGAAAAAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111118731_111118738del , CM000667.2:g.111118731_111118738del | GRCh38 |
| NC_000005.9:g.110454429_110454436del , CM000667.1:g.110454429_110454436del | GRCh37 |
| NC_000005.8:g.110482328_110482335del | NCBI36 |
| NG_008979.1:g.31560_31567del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513710.4:c.1797-282_1797-275del MANE Select | ENSP00000424628.3:n.1797-282_1797-275del | |
| ENST00000506538.6:c.1965-282_1965-275del | ENSP00000423067.2:n.1965-282_1965-275del | |
| ENST00000513710.3:c.1797-282_1797-275del | ENSP00000424628.3:n.1797-282_1797-275del | |
| ENST00000612402.4:c.1965-282_1965-275del | ENSP00000479950.1:n.1965-282_1965-275del | |
| NM_139281.2:c.1965-282_1965-275del | NP_644810.1:n.1965-282_1965-275del | |
| XM_011543163.1:c.1965-282_1965-275del | XP_011541465.1:n.1965-282_1965-275del | |
| NM_139281.3:c.1797-282_1797-275del MANE Select | NP_644810.2:n.1797-282_1797-275del |