Linked Data
ClinVar Variation Id:
1796651
dbSNP Id:
rs747740545
ExAC:
3:122003625 GAGC / G
gnomAD v2:
3-122003625-GAGC-G
gnomAD v4:
3-122284778-GAGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284791_122284793del , CM000665.2:g.122284791_122284793del | GRCh38 |
| NC_000003.11:g.122003638_122003640del , CM000665.1:g.122003638_122003640del | GRCh37 |
| NC_000003.10:g.123486328_123486330del | NCBI36 |
| NG_009058.1:g.106109_106111del | |
| NG_009058.2:g.106124_106126del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.2606_2608del | ENSP00000418685.2:p.Gln869del | |
| ENST00000498619.4:c.2867_2869del | ENSP00000420194.1:p.Gln956del | |
| ENST00000638421.1:c.2837_2839del | ENSP00000492190.1:p.Gln946del | |
| ENST00000639785.2:c.2837_2839del MANE Select | ENSP00000491584.2:p.Gln946del | |
| ENST00000490131.5:c.2837_2839del | ENSP00000418685.1:p.Gln946del | |
| ENST00000498619.2:c.2867_2869del | ENSP00000420194.1:p.Gln956del | |
| NM_000388.3:c.2837_2839del | NP_000379.2:p.Gln946del | |
| NM_001178065.1:c.2867_2869del | NP_001171536.1:p.Gln956del | |
| XM_005247836.2:c.2837_2839del | XP_005247893.1:p.Gln946del | |
| XM_005247837.2:c.2354_2356del | XP_005247894.1:p.Gln785del | |
| XM_006713789.2:c.2837_2839del | XP_006713852.1:p.Gln946del | |
| XM_011513237.1:c.2837_2839del | XP_011511539.1:p.Gln946del | |
| XM_011513238.1:c.2837_2839del | XP_011511540.1:p.Gln946del | |
| XM_011513239.1:c.2249_2251del | XP_011511541.1:p.Gln750del | |
| XM_006713789.3:c.2837_2839del | XP_006713852.1:p.Gln946del | |
| XM_017007324.1:c.2837_2839del | XP_016862813.1:p.Gln946del | |
| XM_017007325.1:c.2837_2839del | XP_016862814.1:p.Gln946del | |
| NM_000388.4:c.2837_2839del MANE Select | NP_000379.3:p.Gln946del | |
| NM_001178065.2:c.2867_2869del | NP_001171536.2:p.Gln956del |