ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40073532_40073535del , CM000663.2:g.40073532_40073535del | GRCh38 |
| NC_000001.10:g.40539204_40539207del , CM000663.1:g.40539204_40539207del | GRCh37 |
| NC_000001.9:g.40311791_40311794del | NCBI36 |
| NG_009192.1:g.28936_28939del , LRG_690:g.28936_28939del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.*526_*529del | ENSP00000394863.4:n.*526_*529del | |
| ENST00000439754.6:c.*526_*529del | ENSP00000403207.2:n.*526_*529del | |
| ENST00000449045.7:c.*526_*529del | ENSP00000392293.2:n.*526_*529del | |
| ENST00000530076.6:c.*526_*529del | ENSP00000434007.1:n.*526_*529del | |
| ENST00000530704.6:c.*1070_*1073del | ENSP00000431655.1:n.*1070_*1073del | |
| ENST00000641083.1:c.1537_1540del | ||
| ENST00000641236.1:n.1684_1687del | ||
| ENST00000641319.1:c.*657_*660del | ENSP00000493128.1:n.*657_*660del | |
| ENST00000641471.1:c.*526_*529del | ENSP00000493146.1:n.*526_*529del | |
| ENST00000641691.1:c.*1299_*1302del | ENSP00000492910.1:n.*1299_*1302del | |
| ENST00000642050.2:c.*526_*529del MANE Select | ENSP00000493153.1:n.*526_*529del | |
| ENST00000433473.7:c.*526_*529del | ENSP00000394863.3:n.*526_*529del | |
| ENST00000529905.5:c.*389-78_*389-75del | ENSP00000432053.1:n.*389-78_*389-75del | |
| NM_000310.3:c.*526_*529del , LRG_690t1:c.*526_*529del | NP_000301.1:n.*526_*529del | |
| NM_001142604.1:c.*526_*529del | NP_001136076.1:n.*526_*529del | |
| XM_005271008.1:c.*526_*529del | XP_005271065.1:n.*526_*529del | |
| NM_001363695.1:c.*526_*529del | NP_001350624.1:n.*526_*529del | |
| NM_000310.4:c.*526_*529del MANE Select | NP_000301.1:n.*526_*529del | |
| NM_001142604.2:c.*526_*529del | NP_001136076.1:n.*526_*529del | |
| NM_001363695.2:c.*526_*529del | NP_001350624.1:n.*526_*529del |