Linked Data
dbSNP Id:
rs1801347384
gnomAD v3:
7-150955693-T-TAAGCGTGGGCAGC
gnomAD v4:
7-150955693-T-TAAGCGTGGGCAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150955695_150955707dup , CM000669.2:g.150955695_150955707dup | GRCh38 |
| NC_000007.13:g.150652783_150652795dup , CM000669.1:g.150652783_150652795dup | GRCh37 |
| NC_000007.12:g.150283716_150283728dup | NCBI36 |
| NG_008916.1:g.27221_27233dup , LRG_288:g.27221_27233dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.116_128dup | ||
| ENST00000684241.1:n.1961+1585_1961+1597dup | ||
| ENST00000262186.10:c.1128+1585_1128+1597dup MANE Select | ENSP00000262186.5:n.1128+1585_1128+1597dup | |
| ENST00000330883.9:c.-203_-191dup | ENSP00000328531.4:n.-203_-191dup | |
| ENST00000262186.9:c.1128+1585_1128+1597dup | ENSP00000262186.5:n.1128+1585_1128+1597dup | |
| ENST00000330883.8:c.-203_-191dup | ENSP00000328531.4:n.-203_-191dup | |
| ENST00000430723.4:c.780+1585_780+1597dup | ENSP00000387657.4:n.780+1585_780+1597dup | |
| ENST00000461280.1:n.105_117dup | ||
| ENST00000473610.5:n.123_135dup | ||
| ENST00000532957.5:n.1351+1585_1351+1597dup | ||
| NM_000238.3:c.1128+1585_1128+1597dup , LRG_288t1:c.1128+1585_1128+1597dup | NP_000229.1:n.1128+1585_1128+1597dup | |
| NM_001204798.1:c.-203_-191dup | NP_001191727.1:n.-203_-191dup | |
| NM_172056.2:c.1128+1585_1128+1597dup , LRG_288t2:c.1128+1585_1128+1597dup | NP_742053.1:n.1128+1585_1128+1597dup | |
| NM_172057.2:c.-203_-191dup , LRG_288t3:c.-203_-191dup | NP_742054.1:n.-203_-191dup | |
| XM_011516185.1:c.828+1585_828+1597dup | XP_011514487.1:n.828+1585_828+1597dup | |
| XM_011516186.1:c.1128+1585_1128+1597dup | XP_011514488.1:n.1128+1585_1128+1597dup | |
| XM_011516185.2:c.828+1585_828+1597dup | XP_011514487.1:n.828+1585_828+1597dup | |
| XM_011516186.3:c.1128+1585_1128+1597dup | XP_011514488.1:n.1128+1585_1128+1597dup | |
| XM_017012195.1:c.978+1585_978+1597dup | XP_016867684.1:n.978+1585_978+1597dup | |
| XM_017012196.1:c.951+1585_951+1597dup | XP_016867685.1:n.951+1585_951+1597dup | |
| NM_000238.4:c.1128+1585_1128+1597dup MANE Select | NP_000229.1:n.1128+1585_1128+1597dup | |
| NM_001204798.2:c.-203_-191dup | NP_001191727.1:n.-203_-191dup | |
| NM_172057.3:c.-203_-191dup | NP_742054.1:n.-203_-191dup |