Linked Data
dbSNP Id:
rs992720805
MyVariant Identifiers:
chr5:g.127169458_127169459insAAG (hg19)
chr5:g.127833766_127833767insAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127833767_127833768insAGA , CM000667.2:g.127833767_127833768insAGA | GRCh38 |
| NC_000005.9:g.127169459_127169460insAGA , CM000667.1:g.127169459_127169460insAGA | GRCh37 |
| NC_000005.8:g.127197358_127197359insAGA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706942.1:c.468+35605_468+35606insAGA | ENSP00000516662.1:n.468+35605_468+35606insAGA | |
| ENST00000514853.5:c.411+35605_411+35606insAGA MANE Select | ENSP00000490579.2:n.411+35605_411+35606insAGA | |
| ENST00000514853.4:c.411+35605_411+35606insAGA | ENSP00000490579.2:n.411+35605_411+35606insAGA | |
| XR_159059.3:n.500+35605_500+35606insAGA | ||
| XR_246581.3:n.434+35605_434+35606insAGA | ||
| XR_246582.2:n.366+35605_366+35606insAGA | ||
| XR_948747.1:n.305-6349_305-6348insCTT | ||
| XR_948748.1:n.396+35605_396+35606insAGA | ||
| XR_948749.1:n.425+35605_425+35606insAGA | ||
| XR_948750.1:n.593+35605_593+35606insAGA | ||
| XR_948751.1:n.597+35605_597+35606insAGA | ||
| XR_948752.1:n.316+35605_316+35606insAGA | ||
| XR_948753.1:n.503+35605_503+35606insAGA | ||
| XR_948754.1:n.502+35605_502+35606insAGA | ||
| XR_948755.1:n.501+35605_501+35606insAGA | ||
| XR_948756.1:n.501+35605_501+35606insAGA | ||
| XR_948757.1:n.501+35605_501+35606insAGA | ||
| XR_948758.1:n.501+35605_501+35606insAGA | ||
| XR_948759.1:n.501+35605_501+35606insAGA | ||
| XR_948761.1:n.521-15540_521-15539insAGA | ||
| XR_948762.1:n.501+35605_501+35606insAGA | ||
| XR_948764.1:n.502+35605_502+35606insAGA | ||
| XR_948765.1:n.501+35605_501+35606insAGA | ||
| XR_948766.1:n.502-4840_502-4839insAGA | ||
| NM_001317938.1:c.468+35605_468+35606insAGA | NP_001304867.1:n.468+35605_468+35606insAGA | |
| XM_017009805.1:c.381+35605_381+35606insAGA | XP_016865294.1:n.381+35605_381+35606insAGA | |
| XM_017009806.2:c.348+35605_348+35606insAGA | XP_016865295.1:n.348+35605_348+35606insAGA | |
| XM_017009807.1:c.348+35605_348+35606insAGA | XP_016865296.1:n.348+35605_348+35606insAGA | |
| XM_017009808.1:c.306+35605_306+35606insAGA | XP_016865297.1:n.306+35605_306+35606insAGA | |
| XM_017009809.2:c.468+35605_468+35606insAGA | XP_016865298.1:n.468+35605_468+35606insAGA | |
| XM_017009810.2:c.468+35605_468+35606insAGA | XP_016865299.1:n.468+35605_468+35606insAGA | |
| XM_017009811.2:c.468+35605_468+35606insAGA | XP_016865300.1:n.468+35605_468+35606insAGA | |
| XM_017009812.2:c.468+35605_468+35606insAGA | XP_016865301.1:n.468+35605_468+35606insAGA | |
| XM_017009813.2:c.469-4840_469-4839insAGA | XP_016865302.1:n.469-4840_469-4839insAGA | |
| XM_024446203.1:c.348+35605_348+35606insAGA | XP_024301971.1:n.348+35605_348+35606insAGA | |
| XR_002956177.1:n.434+35605_434+35606insAGA | ||
| XR_948757.3:n.501+35605_501+35606insAGA | ||
| NM_001317938.2:c.411+35605_411+35606insAGA MANE Select | NP_001304867.2:n.411+35605_411+35606insAGA |