Linked Data
dbSNP Id:
rs755583413
ExAC:
4:113567601 TGTAGAG / T
gnomAD v2:
4-113567601-TGTAGAG-T
gnomAD v4:
4-112646445-TGTAGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112646449_112646454del , CM000666.2:g.112646449_112646454del | GRCh38 |
| NC_000004.11:g.113567605_113567610del , CM000666.1:g.113567605_113567610del | GRCh37 |
| NC_000004.10:g.113787054_113787059del | NCBI36 |
| NG_032779.1:g.14486_14491del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505034.6:c.301_303+3del | ||
| ENST00000505216.2:c.*60_*62+3del | ||
| ENST00000694891.1:c.301_303+3del | ||
| ENST00000694892.1:n.305_310del | ||
| ENST00000694893.1:n.394_399del | ||
| ENST00000694894.1:c.301_303+3del | ||
| ENST00000694895.1:c.301_303+3del | ||
| ENST00000694896.1:c.301_303+3del | ||
| ENST00000694897.1:c.301_303+3del | ||
| ENST00000694898.1:c.301_303+3del | ||
| ENST00000694899.1:c.301_303+3del | ||
| ENST00000694900.1:c.301_303+3del | ||
| ENST00000694901.1:c.*60_*62+3del | ||
| ENST00000694902.1:n.822_824+3del | ||
| ENST00000511529.2:c.301_303+3del | ||
| ENST00000512361.2:n.410_412+3del | ||
| ENST00000512589.6:c.*107_*109+3del | ||
| ENST00000684864.1:c.301_303+3del | ||
| ENST00000688617.1:n.575_577+3del | ||
| ENST00000689262.1:n.1452_1454+3del | ||
| ENST00000689844.1:c.301_303+3del | ||
| ENST00000690008.1:c.*60_*62+3del | ||
| ENST00000692075.1:n.466_468+3del | ||
| ENST00000692168.1:n.389_391+3del | ||
| ENST00000692416.1:c.64_66+3del | ||
| ENST00000693375.1:c.64_66+3del | ||
| ENST00000693442.1:c.301_303+3del | ||
| ENST00000344442.10:c.301_303+3del | ||
| ENST00000651579.1:c.301_303+3del | ||
| ENST00000324052.10:c.301_303+3del | ||
| ENST00000344442.9:c.301_303+3del | ||
| ENST00000505034.5:c.301_303+3del | ||
| ENST00000505216.1:c.*60_*62+3del | ||
| ENST00000507443.1:c.301_303+3del | ||
| ENST00000508577.5:c.301_303+3del | ||
| ENST00000509061.5:c.322_324+3del | ||
| ENST00000509622.5:c.*60_*62+3del | ||
| ENST00000512589.5:c.*107_*109+3del | ||
| ENST00000513553.5:c.31-1270_31-1265del | ENSP00000422013.1:n.31-1270_31-1265del | |
| NM_001267039.1:c.322_324+3del | ||
| NM_015454.2:c.301_303+3del | ||
| NM_016648.3:c.301_303+3del | ||
| NR_049768.1:n.476_478+3del | ||
| XM_024454080.1:c.301_303+3del | ||
| XM_024454081.1:c.301_303+3del | ||
| XM_024454082.1:c.301_303+3del | ||
| XM_024454083.1:c.301_303+3del | ||
| XM_024454084.1:c.301_303+3del | ||
| XM_024454085.1:c.301_303+3del | ||
| XM_024454086.1:c.64_66+3del | ||
| XM_024454087.1:c.64_66+3del | ||
| XM_024454088.1:c.64_66+3del | ||
| XM_024454089.1:c.-636_-631del | XP_024309857.1:n.-636_-631del | |
| NM_016648.4:c.301_303+3del | ||
| NM_001370974.1:c.301_303+3del | ||
| NM_001370975.1:c.301_303+3del | ||
| NM_001370976.1:c.301_303+3del | ||
| NM_001370977.1:c.301_303+3del | ||
| NM_001370978.1:c.301_303+3del | ||
| NM_001370979.1:c.301_303+3del | ||
| NM_001370980.1:c.301_303+3del | ||
| NM_001370981.1:c.64_66+3del | ||
| NM_001370982.1:c.64_66+3del | ||
| NM_001267039.2:c.322_324+3del | ||
| NM_015454.3:c.301_303+3del | ||
| NM_001267039.4:c.301_303+3del |