Linked Data
dbSNP Id:
rs777556109
gnomAD v2:
5-118814717-GTAAGTAAGCAAGCTTATATT-G
gnomAD v3:
5-119479022-GTAAGTAAGCAAGCTTATATT-G
gnomAD v4:
5-119479022-GTAAGTAAGCAAGCTTATATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119479024_119479043del , CM000667.2:g.119479024_119479043del | GRCh38 |
| NC_000005.9:g.118814719_118814738del , CM000667.1:g.118814719_118814738del | GRCh37 |
| NC_000005.8:g.118842618_118842637del | NCBI36 |
| NG_008182.1:g.31572_31591del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.622+3_622+22del | ENSP00000426272.2:n.622+3_622+22del | |
| ENST00000518349.6:c.113-17519_113-17500del | ENSP00000507185.1:n.113-17519_113-17500del | |
| ENST00000682445.1:c.*503+3_*503+22del | ENSP00000508061.1:n.*503+3_*503+22del | |
| ENST00000682531.1:n.723+3_723+22del | ||
| ENST00000682626.1:c.*128+3_*128+22del | ENSP00000507857.1:n.*128+3_*128+22del | |
| ENST00000682996.1:c.622+3_622+22del | ENSP00000507792.1:n.622+3_622+22del | |
| ENST00000683265.1:n.715+3_715+22del | ||
| ENST00000683371.1:c.*752+3_*752+22del | ENSP00000508376.1:n.*752+3_*752+22del | |
| ENST00000683390.1:n.2312+3_2312+22del | ||
| ENST00000683549.1:n.543+3_543+22del | ||
| ENST00000683936.1:c.*507+3_*507+22del | ENSP00000507721.1:n.*507+3_*507+22del | |
| ENST00000683974.1:n.704+3_704+22del | ||
| ENST00000683996.1:c.211+3_211+22del | ENSP00000507060.1:n.211+3_211+22del | |
| ENST00000684131.1:n.461+3_461+22del | ||
| ENST00000684160.1:c.*312+3_*312+22del | ENSP00000507821.1:n.*312+3_*312+22del | |
| ENST00000684214.1:c.622+3_622+22del | ENSP00000508071.1:n.622+3_622+22del | |
| ENST00000414835.7:c.697+3_697+22del | ENSP00000411960.3:n.697+3_697+22del | |
| ENST00000510025.7:c.622+3_622+22del MANE Select | ENSP00000424940.3:n.622+3_622+22del | |
| ENST00000643250.1:c.*494+3_*494+22del | ENSP00000494737.1:n.*494+3_*494+22del | |
| ENST00000644146.1:c.*200+3_*200+22del | ENSP00000494808.1:n.*200+3_*200+22del | |
| ENST00000645099.1:c.181+3_181+22del | ENSP00000496091.1:n.181+3_181+22del | |
| ENST00000645702.1:c.211+3_211+22del | ENSP00000496432.1:n.211+3_211+22del | |
| ENST00000645832.1:c.*507+3_*507+22del | ENSP00000494316.1:n.*507+3_*507+22del | |
| ENST00000646058.1:c.622+3_622+22del | ENSP00000493579.1:n.622+3_622+22del | |
| ENST00000646355.1:c.*628+3_*628+22del | ENSP00000493801.1:n.*628+3_*628+22del | |
| ENST00000646554.1:c.*600+3_*600+22del | ENSP00000494542.1:n.*600+3_*600+22del | |
| ENST00000647335.1:c.*589+3_*589+22del | ENSP00000495180.1:n.*589+3_*589+22del | |
| ENST00000647342.1:c.*553+3_*553+22del | ENSP00000494992.1:n.*553+3_*553+22del | |
| ENST00000256216.10:c.622+3_622+22del | ENSP00000256216.6:n.622+3_622+22del | |
| ENST00000414835.6:c.202+3_202+22del | ENSP00000411960.2:n.202+3_202+22del | |
| ENST00000442060.7:c.622+3_622+22del | ENSP00000390208.3:n.622+3_622+22del | |
| ENST00000504811.5:c.697+3_697+22del | ENSP00000420914.1:n.697+3_697+22del | |
| ENST00000505181.5:n.325+3_325+22del | ||
| ENST00000509514.5:c.-263+3_-263+22del | ENSP00000426272.1:n.-263+3_-263+22del | |
| ENST00000510025.5:c.550+3_550+22del | ENSP00000424940.1:n.550+3_550+22del | |
| ENST00000512644.1:n.190+3_190+22del | ||
| ENST00000513628.5:c.211+3_211+22del | ENSP00000425993.1:n.211+3_211+22del | |
| ENST00000515235.6:n.682+3_682+22del | ||
| ENST00000515320.5:c.568+3_568+22del | ENSP00000424613.1:n.568+3_568+22del | |
| NM_000414.3:c.622+3_622+22del | NP_000405.1:n.622+3_622+22del | |
| NM_001199291.2:c.697+3_697+22del | NP_001186220.1:n.697+3_697+22del | |
| NM_001199292.1:c.568+3_568+22del | NP_001186221.1:n.568+3_568+22del | |
| NM_001292027.1:c.550+3_550+22del | NP_001278956.1:n.550+3_550+22del | |
| NM_001292028.1:c.202+3_202+22del | NP_001278957.1:n.202+3_202+22del | |
| NM_000414.4:c.622+3_622+22del MANE Select | NP_000405.1:n.622+3_622+22del | |
| NM_001199291.3:c.697+3_697+22del | NP_001186220.1:n.697+3_697+22del | |
| NM_001199292.2:c.568+3_568+22del | NP_001186221.1:n.568+3_568+22del | |
| NM_001292027.2:c.550+3_550+22del | NP_001278956.1:n.550+3_550+22del | |
| NM_001292028.2:c.202+3_202+22del | NP_001278957.1:n.202+3_202+22del | |
| NM_001374497.1:c.613+3_613+22del | NP_001361426.1:n.613+3_613+22del | |
| NM_001374498.1:c.622+3_622+22del | NP_001361427.1:n.622+3_622+22del | |
| NM_001374499.1:c.295+3_295+22del | NP_001361428.1:n.295+3_295+22del | |
| NM_001374500.1:c.181+3_181+22del | NP_001361429.1:n.181+3_181+22del | |
| NM_001374501.1:c.211+3_211+22del | NP_001361430.1:n.211+3_211+22del | |
| NM_001374502.1:c.211+3_211+22del | NP_001361431.1:n.211+3_211+22del | |
| NM_001374503.1:c.211+3_211+22del | NP_001361432.1:n.211+3_211+22del | |
| NR_164653.1:n.701+3_701+22del | ||
| NR_164654.1:n.889+3_889+22del |