Linked Data
dbSNP Id:
rs540169888
gnomAD v2:
15-48521313-CAGAT-C
gnomAD v3:
15-48229116-CAGAT-C
gnomAD v4:
15-48229116-CAGAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48229119_48229122del , CM000677.2:g.48229119_48229122del | GRCh38 |
| NC_000015.9:g.48521316_48521319del , CM000677.1:g.48521316_48521319del | GRCh37 |
| NC_000015.8:g.46308608_46308611del | NCBI36 |
| NG_021301.1:g.27819_27822del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686073.1:c.725-70_725-67del | ENSP00000508901.1:n.725-70_725-67del | |
| ENST00000380993.8:c.725-70_725-67del MANE Select | ENSP00000370381.3:n.725-70_725-67del | |
| ENST00000646012.1:c.863-70_863-67del | ENSP00000495813.1:n.863-70_863-67del | |
| ENST00000647232.1:c.725-70_725-67del | ENSP00000493875.1:n.725-70_725-67del | |
| ENST00000647546.1:c.725-70_725-67del | ENSP00000495332.1:n.725-70_725-67del | |
| ENST00000330289.10:c.725-70_725-67del | ENSP00000331550.6:n.725-70_725-67del | |
| ENST00000380993.7:c.725-70_725-67del | ENSP00000370381.3:n.725-70_725-67del | |
| ENST00000396577.7:c.725-70_725-67del | ENSP00000379822.3:n.725-70_725-67del | |
| ENST00000558252.5:n.4848-70_4848-67del | ||
| ENST00000558405.5:c.725-70_725-67del | ENSP00000453409.1:n.725-70_725-67del | |
| ENST00000559641.5:c.164-70_164-67del | ENSP00000453230.1:n.164-70_164-67del | |
| ENST00000559723.2:n.98-70_98-67del | ||
| ENST00000560692.5:n.4794_4797del | ||
| ENST00000561127.5:c.164-70_164-67del | ENSP00000453602.2:n.164-70_164-67del | |
| NM_000338.2:c.725-70_725-67del | NP_000329.2:n.725-70_725-67del | |
| NM_001184832.1:c.725-70_725-67del | NP_001171761.1:n.725-70_725-67del | |
| XM_005254605.1:c.821-70_821-67del | XP_005254662.1:n.821-70_821-67del | |
| XM_005254606.1:c.725-70_725-67del | XP_005254663.1:n.725-70_725-67del | |
| XM_006720656.1:c.821-70_821-67del | XP_006720719.1:n.821-70_821-67del | |
| XR_931896.1:n.1037-70_1037-67del | ||
| XR_932203.1:n.229+836_229+839del | ||
| XR_932204.1:n.222+836_222+839del | ||
| XM_005254606.2:c.725-70_725-67del | XP_005254663.1:n.725-70_725-67del | |
| XR_001751524.2:n.230+836_230+839del | ||
| XR_001751525.1:n.230+836_230+839del | ||
| XR_002957762.1:n.230+836_230+839del | ||
| XR_932204.3:n.224+836_224+839del | ||
| NM_000338.3:c.725-70_725-67del MANE Select | NP_000329.2:n.725-70_725-67del | |
| NM_001184832.2:c.725-70_725-67del | NP_001171761.1:n.725-70_725-67del | |
| NM_001384136.1:c.725-70_725-67del | NP_001371065.1:n.725-70_725-67del |