Linked Data
dbSNP Id:
rs866742640
MyVariant Identifiers:
chr7:g.150647030del (hg19)
chr7:g.150949943del (hg38)
chr7:g.150949942del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150949943del , CM000669.2:g.150949943del | GRCh38 |
| NC_000007.13:g.150647031del , CM000669.1:g.150647031del | GRCh37 |
| NC_000007.12:g.150277964del | NCBI36 |
| NG_008916.1:g.32985del , LRG_288:g.32985del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1922del | ||
| ENST00000684241.1:n.3231+226del | ||
| ENST00000262186.10:c.2398+226del MANE Select | ENSP00000262186.5:n.2398+226del | |
| ENST00000330883.9:c.1378+226del | ENSP00000328531.4:n.1378+226del | |
| ENST00000262186.9:c.2398+226del | ENSP00000262186.5:n.2398+226del | |
| ENST00000330883.8:c.1378+226del | ENSP00000328531.4:n.1378+226del | |
| ENST00000430723.4:c.2276del | ENSP00000387657.4:p.Phe759SerfsTer13 | |
| ENST00000461280.1:n.1911del | ||
| ENST00000473610.5:n.2256del | ||
| ENST00000532957.5:n.2847del | ||
| NM_000238.3:c.2398+226del , LRG_288t1:c.2398+226del | NP_000229.1:n.2398+226del | |
| NM_001204798.1:c.1604del | NP_001191727.1:p.Phe535SerfsTer13 | |
| NM_172056.2:c.2624del , LRG_288t2:c.2624del | NP_742053.1:p.Phe875SerfsTer13 | |
| NM_172057.2:c.1378+226del , LRG_288t3:c.1378+226del | NP_742054.1:n.1378+226del | |
| XM_011516185.1:c.2098+226del | XP_011514487.1:n.2098+226del | |
| XM_011516186.1:c.2398+226del | XP_011514488.1:n.2398+226del | |
| XM_011516185.2:c.2098+226del | XP_011514487.1:n.2098+226del | |
| XM_011516186.3:c.2398+226del | XP_011514488.1:n.2398+226del | |
| XM_017012195.1:c.2248+226del | XP_016867684.1:n.2248+226del | |
| XM_017012196.1:c.2221+226del | XP_016867685.1:n.2221+226del | |
| NM_000238.4:c.2398+226del MANE Select | NP_000229.1:n.2398+226del | |
| NM_001204798.2:c.1604del | NP_001191727.1:p.Phe535SerfsTer13 | |
| NM_172057.3:c.1378+226del | NP_742054.1:n.1378+226del |