Linked Data
ClinVar Variation Id:
200795
dbSNP Id:
rs794728502
gnomAD v2:
7-150644920-C-CGCCCG
gnomAD v4:
7-150947832-C-CGCCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947842_150947846dup , CM000669.2:g.150947842_150947846dup | GRCh38 |
| NC_000007.13:g.150644930_150644934dup , CM000669.1:g.150644930_150644934dup | GRCh37 |
| NC_000007.12:g.150275863_150275867dup | NCBI36 |
| NG_008916.1:g.35090_35094dup , LRG_288:g.35090_35094dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3567_3571dup | ||
| ENST00000262186.10:c.2734_2738dup MANE Select | ENSP00000262186.5:p.Ala915ArgfsTer? | |
| ENST00000330883.9:c.1714_1718dup | ENSP00000328531.4:p.Ala575ArgfsTer? | |
| ENST00000262186.9:c.2734_2738dup | ENSP00000262186.5:p.Ala915ArgfsTer? | |
| ENST00000330883.8:c.1714_1718dup | ENSP00000328531.4:p.Ala575ArgfsTer? | |
| NM_000238.3:c.2734_2738dup , LRG_288t1:c.2734_2738dup | NP_000229.1:p.Ala915ArgfsTer? | |
| NM_172057.2:c.1714_1718dup , LRG_288t3:c.1714_1718dup | NP_742054.1:p.Ala575ArgfsTer? | |
| XM_011516185.1:c.2434_2438dup | XP_011514487.1:p.Ala815ArgfsTer? | |
| XM_011516186.1:c.2693-146_2693-142dup | XP_011514488.1:n.2693-146_2693-142dup | |
| XM_011516185.2:c.2434_2438dup | XP_011514487.1:p.Ala815ArgfsTer? | |
| XM_011516186.3:c.2693-146_2693-142dup | XP_011514488.1:n.2693-146_2693-142dup | |
| XM_017012195.1:c.2584_2588dup | XP_016867684.1:p.Ala865ArgfsTer? | |
| XM_017012196.1:c.2557_2561dup | XP_016867685.1:p.Ala856ArgfsTer? | |
| NM_000238.4:c.2734_2738dup MANE Select | NP_000229.1:p.Ala915ArgfsTer? | |
| NM_172057.3:c.1714_1718dup | NP_742054.1:p.Ala575ArgfsTer? |