Linked Data
ClinVar Variation Id:
1461453
dbSNP Id:
rs761708451
ExAC:
3:38936440 TGAA / T
gnomAD v2:
3-38936440-TGAA-T
gnomAD v3:
3-38894949-TGAA-T
gnomAD v4:
3-38894949-TGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38894952_38894954del , CM000665.2:g.38894952_38894954del | GRCh38 |
| NC_000003.11:g.38936443_38936445del , CM000665.1:g.38936443_38936445del | GRCh37 |
| NC_000003.10:g.38911447_38911449del | NCBI36 |
| NG_033859.1:g.60610_60612del | |
| NG_033859.2:g.162035_162037del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302328.9:c.2416_2418del MANE Select | ENSP00000307599.3:p.Phe806del | |
| ENST00000668754.1:c.2416_2418del | ENSP00000499569.1:p.Phe806del | |
| ENST00000675223.1:c.2416_2418del | ENSP00000502481.1:p.Phe806del | |
| ENST00000675672.1:c.2416_2418del | ENSP00000502446.1:p.Phe806del | |
| ENST00000675892.1:c.2236_2238del | ENSP00000502318.1:p.Phe746del | |
| ENST00000676045.1:c.2460_2462del | ENSP00000501685.1:n.2460_2462del | |
| ENST00000676176.1:c.2035_2037del | ENSP00000501891.1:p.Phe679del | |
| ENST00000302328.7:c.2416_2418del | ENSP00000307599.3:p.Phe806del | |
| ENST00000444237.2:c.2416_2418del | ENSP00000408028.2:p.Phe806del | |
| ENST00000456224.7:c.2416_2418del | ENSP00000416757.3:p.Phe806del | |
| NM_001287223.1:c.2416_2418del | NP_001274152.1:p.Phe806del | |
| NM_014139.2:c.2416_2418del | NP_054858.2:p.Phe806del | |
| XM_011533320.1:c.2416_2418del | XP_011531622.1:p.Phe806del | |
| XM_011533321.1:c.1753_1755del | XP_011531623.1:p.Phe585del | |
| XM_011533322.1:c.964_966del | XP_011531624.1:p.Phe322del | |
| NM_001349253.1:c.2416_2418del | NP_001336182.1:p.Phe806del | |
| XM_011533321.2:c.1753_1755del | XP_011531623.1:p.Phe585del | |
| XM_017005647.1:c.2791_2793del | XP_016861136.1:p.Phe931del | |
| XM_017005648.1:c.2218_2220del | XP_016861137.1:p.Phe740del | |
| XM_017005650.1:c.2416_2418del | XP_016861139.1:p.Phe806del | |
| XM_017005651.1:c.2143_2145del | XP_016861140.1:p.Phe715del | |
| XM_017005652.1:c.2416_2418del | XP_016861141.1:p.Phe806del | |
| XM_017005653.1:c.820_822del | XP_016861142.1:p.Phe274del | |
| NM_001349253.2:c.2416_2418del MANE Select | NP_001336182.1:p.Phe806del | |
| NM_014139.3:c.2416_2418del | NP_054858.2:p.Phe806del |