Linked Data
dbSNP Id:
rs776429479
ExAC:
17:12896149 CCTT / C
gnomAD v2:
17-12896149-CCTT-C
gnomAD v3:
17-12992832-CCTT-C
gnomAD v4:
17-12992832-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992836_12992838del , CM000679.2:g.12992836_12992838del | GRCh38 |
| NC_000017.10:g.12896153_12896155del , CM000679.1:g.12896153_12896155del | GRCh37 |
| NC_000017.9:g.12836878_12836880del | NCBI36 |
| NG_015808.1:g.30230_30232del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2464_2466del MANE Select | ENSP00000337445.4:p.Lys822del | |
| ENST00000338034.8:c.2464_2466del | ENSP00000337445.4:p.Lys822del | |
| ENST00000395962.6:c.2407_2409del | ENSP00000379291.1:p.Lys803del | |
| ENST00000426905.7:c.2344_2346del | ENSP00000405223.3:p.Lys782del | |
| ENST00000465825.5:n.2351_2353del | ||
| ENST00000480891.5:n.2293_2295del | ||
| ENST00000484122.5:n.3294_3296del | ||
| ENST00000487229.6:n.2010_2012del | ||
| ENST00000584650.5:c.1863_1865del | ||
| NM_001165962.1:c.2344_2346del | NP_001159434.1:p.Lys782del | |
| NM_018127.6:c.2464_2466del | NP_060597.4:p.Lys822del | |
| NM_173717.1:c.2461_2463del | NP_776065.1:p.Lys821del | |
| XM_024450850.1:c.2623_2625del | XP_024306618.1:p.Lys875del | |
| XM_024450851.1:c.2545_2547del | XP_024306619.1:p.Lys849del | |
| XM_024450852.1:c.2542_2544del | XP_024306620.1:p.Lys848del | |
| XM_024450853.1:c.2539_2541del | XP_024306621.1:p.Lys847del | |
| XM_024450854.1:c.2503_2505del | XP_024306622.1:p.Lys835del | |
| XM_024450855.1:c.2422_2424del | XP_024306623.1:p.Lys808del | |
| XM_024450856.1:c.2341_2343del | XP_024306624.1:p.Lys781del | |
| XM_024450857.1:c.2341_2343del | XP_024306625.1:p.Lys781del | |
| XM_024450858.1:c.2260_2262del | XP_024306626.1:p.Lys754del | |
| XM_024450859.1:c.2257_2259del | XP_024306627.1:p.Lys753del | |
| XM_024450860.1:c.2182_2184del | XP_024306628.1:p.Lys728del | |
| XM_024450861.1:c.2182_2184del | XP_024306629.1:p.Lys728del | |
| XM_024450862.1:c.2179_2181del | XP_024306630.1:p.Lys727del | |
| NM_018127.7:c.2464_2466del MANE Select | NP_060597.4:p.Lys822del | |
| NM_001165962.2:c.2344_2346del | NP_001159434.1:p.Lys782del | |
| NM_173717.2:c.2461_2463del | NP_776065.1:p.Lys821del |