Linked Data
dbSNP Id:
rs781180989
ExAC:
7:150647510 TG / T
gnomAD v2:
7-150647510-TG-T
gnomAD v3:
7-150950422-TG-T
gnomAD v4:
7-150950422-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950427del , CM000669.2:g.150950427del | GRCh38 |
| NC_000007.13:g.150647515del , CM000669.1:g.150647515del | GRCh37 |
| NC_000007.12:g.150278448del | NCBI36 |
| NG_008916.1:g.32504del , LRG_288:g.32504del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1444-3del | ||
| ENST00000684241.1:n.2979-3del | ||
| ENST00000262186.10:c.2146-3del MANE Select | ENSP00000262186.5:n.2146-3del | |
| ENST00000330883.9:c.1126-3del | ENSP00000328531.4:n.1126-3del | |
| ENST00000262186.9:c.2146-3del | ENSP00000262186.5:n.2146-3del | |
| ENST00000330883.8:c.1126-3del | ENSP00000328531.4:n.1126-3del | |
| ENST00000430723.4:c.1798-3del | ENSP00000387657.4:n.1798-3del | |
| ENST00000461280.1:n.1433-3del | ||
| ENST00000473610.5:n.1778-3del | ||
| ENST00000532957.5:n.2369-3del | ||
| NM_000238.3:c.2146-3del , LRG_288t1:c.2146-3del | NP_000229.1:n.2146-3del | |
| NM_001204798.1:c.1126-3del | NP_001191727.1:n.1126-3del | |
| NM_172056.2:c.2146-3del , LRG_288t2:c.2146-3del | NP_742053.1:n.2146-3del | |
| NM_172057.2:c.1126-3del , LRG_288t3:c.1126-3del | NP_742054.1:n.1126-3del | |
| XM_011516185.1:c.1846-3del | XP_011514487.1:n.1846-3del | |
| XM_011516186.1:c.2146-3del | XP_011514488.1:n.2146-3del | |
| XM_011516185.2:c.1846-3del | XP_011514487.1:n.1846-3del | |
| XM_011516186.3:c.2146-3del | XP_011514488.1:n.2146-3del | |
| XM_017012195.1:c.1996-3del | XP_016867684.1:n.1996-3del | |
| XM_017012196.1:c.1969-3del | XP_016867685.1:n.1969-3del | |
| NM_000238.4:c.2146-3del MANE Select | NP_000229.1:n.2146-3del | |
| NM_001204798.2:c.1126-3del | NP_001191727.1:n.1126-3del | |
| NM_172057.3:c.1126-3del | NP_742054.1:n.1126-3del |