Linked Data
ClinVar Variation Id:
372713
dbSNP Id:
rs767489236
gnomAD v2:
15-28267656-CCAGCGGTGATAAGGCCAA-C
gnomAD v3:
15-28022510-CCAGCGGTGATAAGGCCAA-C
gnomAD v4:
15-28022510-CCAGCGGTGATAAGGCCAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28022515_28022532del , CM000677.2:g.28022515_28022532del | GRCh38 |
| NC_000015.9:g.28267661_28267678del , CM000677.1:g.28267661_28267678del | GRCh37 |
| NC_000015.8:g.25941256_25941273del | NCBI36 |
| NG_009846.1:g.81785_81802del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354638.8:c.619_636del MANE Select | ENSP00000346659.3:p.Leu207_Leu212del | |
| ENST00000353809.9:c.619_636del | ENSP00000261276.8:p.Leu207_Leu212del | |
| ENST00000354638.7:c.619_636del | ENSP00000346659.3:p.Leu207_Leu212del | |
| ENST00000431101.1:c.619_636del | ENSP00000415431.1:p.Leu207_Leu212del | |
| ENST00000445578.5:c.573+2317_573+2334del | ENSP00000414425.1:n.573+2317_573+2334del | |
| NM_000275.2:c.619_636del | NP_000266.2:p.Leu207_Leu212del | |
| NM_001300984.1:c.619_636del | NP_001287913.1:p.Leu207_Leu212del | |
| XM_011521639.1:c.643_660del | XP_011519941.1:p.Leu215_Leu220del | |
| XM_011521640.1:c.619_636del | XP_011519942.1:p.Leu207_Leu212del | |
| XM_011521641.1:c.643_660del | XP_011519943.1:p.Leu215_Leu220del | |
| XM_011521642.1:c.643_660del | XP_011519944.1:p.Leu215_Leu220del | |
| XM_011521643.1:c.643_660del | XP_011519945.1:p.Leu215_Leu220del | |
| XM_011521644.1:c.643_660del | XP_011519946.1:p.Leu215_Leu220del | |
| XM_011521645.1:c.643_660del | XP_011519947.1:p.Leu215_Leu220del | |
| XM_011521646.1:c.643_660del | XP_011519948.1:p.Leu215_Leu220del | |
| XM_011521647.1:c.643_660del | XP_011519949.1:p.Leu215_Leu220del | |
| XR_931843.1:n.2004_2021del | ||
| XM_011521640.2:c.619_636del | XP_011519942.1:p.Leu207_Leu212del | |
| XM_017022255.1:c.643_660del | XP_016877744.1:p.Leu215_Leu220del | |
| XM_017022256.1:c.643_660del | XP_016877745.1:p.Leu215_Leu220del | |
| XM_017022257.1:c.643_660del | XP_016877746.1:p.Leu215_Leu220del | |
| XM_017022258.1:c.643_660del | XP_016877747.1:p.Leu215_Leu220del | |
| XM_017022259.1:c.643_660del | XP_016877748.1:p.Leu215_Leu220del | |
| XM_017022260.1:c.643_660del | XP_016877749.1:p.Leu215_Leu220del | |
| XM_017022261.1:c.448_465del | XP_016877750.1:p.Leu150_Leu155del | |
| XM_017022262.1:c.643_660del | XP_016877751.1:p.Leu215_Leu220del | |
| XM_017022263.1:c.643_660del | XP_016877752.1:p.Leu215_Leu220del | |
| XM_017022264.1:c.643_660del | XP_016877753.1:p.Leu215_Leu220del | |
| XM_017022265.1:c.643_660del | XP_016877754.1:p.Leu215_Leu220del | |
| XR_001751294.1:n.732_749del | ||
| NM_000275.3:c.619_636del MANE Select | NP_000266.2:p.Leu207_Leu212del | |
| NM_001300984.2:c.619_636del | NP_001287913.1:p.Leu207_Leu212del |