Linked Data
ClinVar Variation Id:
2742673
ClinVar RCV Id:
RCV003531666
gnomAD v4:
7-150948489-GACTGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948490_150948495del , CM000669.2:g.150948490_150948495del | GRCh38 |
| NC_000007.13:g.150645578_150645583del , CM000669.1:g.150645578_150645583del | GRCh37 |
| NC_000007.12:g.150276511_150276516del | NCBI36 |
| NG_008916.1:g.34432_34437del , LRG_288:g.34432_34437del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3474_3479del | ||
| ENST00000262186.10:c.2641_2646del MANE Select | ENSP00000262186.5:p.Phe881_Ser882del | |
| ENST00000330883.9:c.1621_1626del | ENSP00000328531.4:p.Phe541_Ser542del | |
| ENST00000262186.9:c.2641_2646del | ENSP00000262186.5:p.Phe881_Ser882del | |
| ENST00000330883.8:c.1621_1626del | ENSP00000328531.4:p.Phe541_Ser542del | |
| NM_000238.3:c.2641_2646del , LRG_288t1:c.2641_2646del | NP_000229.1:p.Phe881_Ser882del | |
| NM_172057.2:c.1621_1626del , LRG_288t3:c.1621_1626del | NP_742054.1:p.Phe541_Ser542del | |
| XM_011516185.1:c.2341_2346del | XP_011514487.1:p.Phe781_Ser782del | |
| XM_011516186.1:c.2641_2646del | XP_011514488.1:p.Phe881_Ser882del | |
| XM_011516185.2:c.2341_2346del | XP_011514487.1:p.Phe781_Ser782del | |
| XM_011516186.3:c.2641_2646del | XP_011514488.1:p.Phe881_Ser882del | |
| XM_017012195.1:c.2491_2496del | XP_016867684.1:p.Phe831_Ser832del | |
| XM_017012196.1:c.2464_2469del | XP_016867685.1:p.Phe822_Ser823del | |
| NM_000238.4:c.2641_2646del MANE Select | NP_000229.1:p.Phe881_Ser882del | |
| NM_172057.3:c.1621_1626del | NP_742054.1:p.Phe541_Ser542del |