Linked Data
dbSNP Id:
rs750134750
ExAC:
7:150647551 AC / A
gnomAD v2:
7-150647551-AC-A
gnomAD v3:
7-150950463-AC-A
gnomAD v4:
7-150950463-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950469del , CM000669.2:g.150950469del | GRCh38 |
| NC_000007.13:g.150647557del , CM000669.1:g.150647557del | GRCh37 |
| NC_000007.12:g.150278490del | NCBI36 |
| NG_008916.1:g.32463del , LRG_288:g.32463del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1444-44del | ||
| ENST00000684241.1:n.2979-44del | ||
| ENST00000262186.10:c.2146-44del MANE Select | ENSP00000262186.5:n.2146-44del | |
| ENST00000330883.9:c.1126-44del | ENSP00000328531.4:n.1126-44del | |
| ENST00000262186.9:c.2146-44del | ENSP00000262186.5:n.2146-44del | |
| ENST00000330883.8:c.1126-44del | ENSP00000328531.4:n.1126-44del | |
| ENST00000430723.4:c.1798-44del | ENSP00000387657.4:n.1798-44del | |
| ENST00000461280.1:n.1433-44del | ||
| ENST00000473610.5:n.1778-44del | ||
| ENST00000532957.5:n.2369-44del | ||
| NM_000238.3:c.2146-44del , LRG_288t1:c.2146-44del | NP_000229.1:n.2146-44del | |
| NM_001204798.1:c.1126-44del | NP_001191727.1:n.1126-44del | |
| NM_172056.2:c.2146-44del , LRG_288t2:c.2146-44del | NP_742053.1:n.2146-44del | |
| NM_172057.2:c.1126-44del , LRG_288t3:c.1126-44del | NP_742054.1:n.1126-44del | |
| XM_011516185.1:c.1846-44del | XP_011514487.1:n.1846-44del | |
| XM_011516186.1:c.2146-44del | XP_011514488.1:n.2146-44del | |
| XM_011516185.2:c.1846-44del | XP_011514487.1:n.1846-44del | |
| XM_011516186.3:c.2146-44del | XP_011514488.1:n.2146-44del | |
| XM_017012195.1:c.1996-44del | XP_016867684.1:n.1996-44del | |
| XM_017012196.1:c.1969-44del | XP_016867685.1:n.1969-44del | |
| NM_000238.4:c.2146-44del MANE Select | NP_000229.1:n.2146-44del | |
| NM_001204798.2:c.1126-44del | NP_001191727.1:n.1126-44del | |
| NM_172057.3:c.1126-44del | NP_742054.1:n.1126-44del |