Linked Data
dbSNP Id:
rs66604439
MyVariant Identifiers:
chr1:g.227073670_227073671insAAG (hg19)
chr1:g.226885969_226885970insAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226885970_226885971insAGA , CM000663.2:g.226885970_226885971insAGA | GRCh38 |
| NC_000001.10:g.227073671_227073672insAGA , CM000663.1:g.227073671_227073672insAGA | GRCh37 |
| NC_000001.9:g.225140294_225140295insAGA | NCBI36 |
| NG_007381.1:g.20399_20400insAGA | |
| NG_007381.2:g.20787_20788insAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.498+291_498+292insAGA | ENSP00000355741.2:n.498+291_498+292insAGA | |
| ENST00000366782.6:c.498+291_498+292insAGA | ENSP00000355746.2:n.498+291_498+292insAGA | |
| ENST00000366783.8:c.498+291_498+292insAGA MANE Select | ENSP00000355747.3:n.498+291_498+292insAGA | |
| ENST00000524196.6:c.498+291_498+292insAGA | ENSP00000429036.2:n.498+291_498+292insAGA | |
| ENST00000626989.3:c.498+291_498+292insAGA | ENSP00000486498.2:n.498+291_498+292insAGA | |
| ENST00000676467.1:c.*328+291_*328+292insAGA | ENSP00000504294.1:n.*328+291_*328+292insAGA | |
| ENST00000676747.1:c.498+291_498+292insAGA | ENSP00000503244.1:n.498+291_498+292insAGA | |
| ENST00000676840.1:c.498+291_498+292insAGA | ENSP00000504318.1:n.498+291_498+292insAGA | |
| ENST00000676884.1:c.498+291_498+292insAGA | ENSP00000503200.1:n.498+291_498+292insAGA | |
| ENST00000676888.1:c.498+291_498+292insAGA | ENSP00000504483.1:n.498+291_498+292insAGA | |
| ENST00000676907.1:c.*77+291_*77+292insAGA | ENSP00000504410.1:n.*77+291_*77+292insAGA | |
| ENST00000676945.1:c.498+291_498+292insAGA | ENSP00000504433.1:n.498+291_498+292insAGA | |
| ENST00000677065.1:n.1059+291_1059+292insAGA | ||
| ENST00000677414.1:c.498+291_498+292insAGA | ENSP00000503116.1:n.498+291_498+292insAGA | |
| ENST00000677529.1:n.936+291_936+292insAGA | ||
| ENST00000677596.1:c.*405+291_*405+292insAGA | ENSP00000503618.1:n.*405+291_*405+292insAGA | |
| ENST00000677599.1:c.498+291_498+292insAGA | ENSP00000503673.1:n.498+291_498+292insAGA | |
| ENST00000677748.1:n.936+291_936+292insAGA | ||
| ENST00000677880.1:c.66+291_66+292insAGA | ENSP00000503121.1:n.66+291_66+292insAGA | |
| ENST00000678021.1:c.*121+291_*121+292insAGA | ENSP00000504674.1:n.*121+291_*121+292insAGA | |
| ENST00000678233.1:c.498+291_498+292insAGA | ENSP00000504728.1:n.498+291_498+292insAGA | |
| ENST00000678320.1:c.498+291_498+292insAGA | ENSP00000503680.1:n.498+291_498+292insAGA | |
| ENST00000678655.1:c.498+291_498+292insAGA | ENSP00000504230.1:n.498+291_498+292insAGA | |
| ENST00000678706.1:c.498+291_498+292insAGA | ENSP00000503659.1:n.498+291_498+292insAGA | |
| ENST00000678776.1:c.*328+291_*328+292insAGA | ENSP00000504624.1:n.*328+291_*328+292insAGA | |
| ENST00000678784.1:c.498+291_498+292insAGA | ENSP00000504652.1:n.498+291_498+292insAGA | |
| ENST00000678820.1:c.498+291_498+292insAGA | ENSP00000504138.1:n.498+291_498+292insAGA | |
| ENST00000678835.1:c.498+291_498+292insAGA | ENSP00000504343.1:n.498+291_498+292insAGA | |
| ENST00000679088.1:c.498+291_498+292insAGA | ENSP00000504727.1:n.498+291_498+292insAGA | |
| ENST00000679098.1:c.498+291_498+292insAGA | ENSP00000504303.1:n.498+291_498+292insAGA | |
| ENST00000366782.5:c.597+291_597+292insAGA | ENSP00000355746.1:n.597+291_597+292insAGA | |
| ENST00000366783.7:c.498+291_498+292insAGA | ENSP00000355747.3:n.498+291_498+292insAGA | |
| ENST00000422240.6:c.498+291_498+292insAGA | ENSP00000403737.2:n.498+291_498+292insAGA | |
| ENST00000460775.5:c.-21-2121_-21-2120insAGA | ENSP00000427912.1:n.-21-2121_-21-2120insAGA | |
| ENST00000472139.2:c.66+291_66+292insAGA | ENSP00000427806.1:n.66+291_66+292insAGA | |
| ENST00000626989.2:c.597+291_597+292insAGA | ENSP00000486498.1:n.597+291_597+292insAGA | |
| NM_000447.2:c.498+291_498+292insAGA | NP_000438.2:n.498+291_498+292insAGA | |
| NM_012486.2:c.498+291_498+292insAGA | NP_036618.2:n.498+291_498+292insAGA | |
| XM_005273199.2:c.498+291_498+292insAGA | XP_005273256.1:n.498+291_498+292insAGA | |
| XM_011544236.1:c.66+291_66+292insAGA | XP_011542538.1:n.66+291_66+292insAGA | |
| XR_949149.1:n.925+291_925+292insAGA | ||
| XR_949150.1:n.925+291_925+292insAGA | ||
| XM_005273199.4:c.498+291_498+292insAGA | XP_005273256.1:n.498+291_498+292insAGA | |
| XM_017001835.1:c.498+291_498+292insAGA | XP_016857324.1:n.498+291_498+292insAGA | |
| XM_017001836.1:c.498+291_498+292insAGA | XP_016857325.1:n.498+291_498+292insAGA | |
| XR_001737316.2:n.903+291_903+292insAGA | ||
| XR_001737317.2:n.903+291_903+292insAGA | ||
| XR_001737318.2:n.903+291_903+292insAGA | ||
| XR_001737319.1:n.1246+291_1246+292insAGA | ||
| XR_001737320.1:n.1246+291_1246+292insAGA | ||
| XR_001737321.1:n.738+291_738+292insAGA | ||
| XR_949149.2:n.903+291_903+292insAGA | ||
| XR_949150.3:n.903+291_903+292insAGA | ||
| NM_000447.3:c.498+291_498+292insAGA MANE Select | NP_000438.2:n.498+291_498+292insAGA | |
| NM_012486.3:c.498+291_498+292insAGA | NP_036618.2:n.498+291_498+292insAGA |