Linked Data
dbSNP Id:
rs1567138672
gnomAD v2:
15-44876471-GCCAGATCTGCTTCT-G
MyVariant Identifiers:
chr15:g.44876472_44876485del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584278_44584291del , CM000677.2:g.44584278_44584291del | GRCh38 |
| NC_000015.9:g.44876476_44876489del , CM000677.1:g.44876476_44876489del | GRCh37 |
| NC_000015.8:g.42663768_42663781del | NCBI36 |
| NG_008885.1:g.84392_84405del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5393_5406del | ENSP00000453246.2:p.Glu1798AlafsTer27 | |
| ENST00000561391.2:n.1621_1634del | ||
| ENST00000682065.1:c.5249_5262del | ENSP00000507025.1:p.Glu1750AlafsTer27 | |
| ENST00000682460.1:c.*1650_*1663del | ENSP00000508334.1:n.*1650_*1663del | |
| ENST00000682495.1:c.*1885_*1898del | ENSP00000507166.1:n.*1885_*1898del | |
| ENST00000682669.1:c.5192_5205del | ENSP00000507782.1:p.Glu1731AlafsTer27 | |
| ENST00000683186.1:c.*2156_*2169del | ENSP00000507268.1:n.*2156_*2169del | |
| ENST00000683496.1:c.5393_5406del | ENSP00000506968.1:p.Glu1798AlafsTer27 | |
| ENST00000683734.1:c.5393_5406del | ENSP00000508319.1:p.Glu1798AlafsTer27 | |
| ENST00000683753.1:n.4439_4452del | ||
| ENST00000684038.1:c.*1813_*1826del | ENSP00000507141.1:n.*1813_*1826del | |
| ENST00000684235.1:c.5393_5406del | ENSP00000508295.1:p.Glu1798AlafsTer27 | |
| ENST00000684676.1:c.5393_5406del | ENSP00000506948.1:p.Glu1798AlafsTer27 | |
| ENST00000261866.12:c.5393_5406del MANE Select | ENSP00000261866.7:p.Glu1798AlafsTer27 | |
| ENST00000261866.11:c.5393_5406del | ENSP00000261866.7:p.Glu1798AlafsTer27 | |
| ENST00000427534.6:c.5393_5406del | ENSP00000396110.2:p.Glu1798AlafsTer27 | |
| ENST00000535302.6:c.5393_5406del | ENSP00000445278.2:p.Glu1798AlafsTer27 | |
| ENST00000558319.5:c.5393_5406del | ENSP00000453599.1:p.Glu1798AlafsTer27 | |
| ENST00000558790.5:n.830_843del | ||
| ENST00000559511.5:c.241_254del | ||
| ENST00000559822.1:c.165_178del | ||
| NM_001160227.1:c.5393_5406del | NP_001153699.1:p.Glu1798AlafsTer27 | |
| NM_025137.3:c.5393_5406del | NP_079413.3:p.Glu1798AlafsTer27 | |
| XM_005254695.3:c.5135_5148del | XP_005254752.1:p.Glu1712AlafsTer27 | |
| XM_006720700.1:c.5249_5262del | XP_006720763.1:p.Glu1750AlafsTer27 | |
| XM_017022634.1:c.5393_5406del | XP_016878123.1:p.Glu1798AlafsTer27 | |
| XM_017022636.1:c.2270_2283del | XP_016878125.1:p.Glu757AlafsTer27 | |
| XR_931917.2:n.5447_5460del | ||
| NM_025137.4:c.5393_5406del MANE Select | NP_079413.3:p.Glu1798AlafsTer27 | |
| NM_001160227.2:c.5393_5406del | NP_001153699.1:p.Glu1798AlafsTer27 |