Linked Data
dbSNP Id:
rs748218896
ExAC:
1:120269604 TC / T
gnomAD v2:
1-120269604-TC-T
gnomAD v3:
1-119726981-TC-T
gnomAD v4:
1-119726981-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726983del , CM000663.2:g.119726983del | GRCh38 |
| NC_000001.10:g.120269606del , CM000663.1:g.120269606del | GRCh37 |
| NC_000001.9:g.120071129del | NCBI36 |
| NG_009188.1:g.20188del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.412-21del | ENSP00000358417.5:n.412-21del | |
| ENST00000462324.2:n.495-21del | ||
| ENST00000641023.2:c.412-21del MANE Select | ENSP00000493175.1:n.412-21del | |
| ENST00000641074.1:c.412-21del | ENSP00000493446.1:n.412-21del | |
| ENST00000641115.1:c.412-21del | ENSP00000493264.1:n.412-21del | |
| ENST00000641213.1:c.*65-21del | ENSP00000493079.1:n.*65-21del | |
| ENST00000641247.1:c.*131-21del | ENSP00000492955.1:n.*131-21del | |
| ENST00000641272.1:c.346-21del | ENSP00000493432.1:n.346-21del | |
| ENST00000641314.1:n.397-21del | ||
| ENST00000641371.1:c.326-21del | ENSP00000493305.1:n.326-21del | |
| ENST00000641375.1:c.*248-21del | ENSP00000493089.1:n.*248-21del | |
| ENST00000641491.1:c.*65-21del | ENSP00000493187.1:n.*65-21del | |
| ENST00000641570.1:c.*131-21del | ENSP00000493213.1:n.*131-21del | |
| ENST00000641573.1:n.500-21del | ||
| ENST00000641587.1:c.*123-21del | ENSP00000493453.1:n.*123-21del | |
| ENST00000641597.1:c.412-21del | ENSP00000493382.1:n.412-21del | |
| ENST00000641711.1:n.636-21del | ||
| ENST00000641756.1:c.*156-21del | ENSP00000493147.1:n.*156-21del | |
| ENST00000641811.1:c.168-21del | ||
| ENST00000641847.1:n.271-21del | ||
| ENST00000641891.1:c.*238-21del | ENSP00000493288.1:n.*238-21del | |
| ENST00000641927.1:n.352-21del | ||
| ENST00000641947.1:c.412-21del | ENSP00000492994.1:n.412-21del | |
| ENST00000642021.1:n.534-21del | ||
| ENST00000642041.1:c.*451-21del | ENSP00000493415.1:n.*451-21del | |
| ENST00000369407.3:c.310-21del | ENSP00000358415.3:n.310-21del | |
| ENST00000369409.8:c.412-21del | ENSP00000358417.4:n.412-21del | |
| ENST00000462324.1:n.680-21del | ||
| ENST00000493622.5:n.601-21del | ||
| NM_006623.3:c.412-21del | NP_006614.2:n.412-21del | |
| XM_011541226.1:c.634-21del | XP_011539528.1:n.634-21del | |
| XM_011541227.1:c.556-21del | XP_011539529.1:n.556-21del | |
| XM_011541228.1:c.523-21del | XP_011539530.1:n.523-21del | |
| XM_011541229.1:c.349-21del | XP_011539531.1:n.349-21del | |
| XM_011541230.1:c.127-21del | XP_011539532.1:n.127-21del | |
| XM_011541231.1:c.118-21del | XP_011539533.1:n.118-21del | |
| XM_011541226.2:c.634-21del | XP_011539528.1:n.634-21del | |
| XM_011541227.2:c.556-21del | XP_011539529.1:n.556-21del | |
| XM_011541228.2:c.523-21del | XP_011539530.1:n.523-21del | |
| XM_011541231.2:c.118-21del | XP_011539533.1:n.118-21del | |
| XM_024446338.1:c.523-21del | XP_024302106.1:n.523-21del | |
| NM_006623.4:c.412-21del MANE Select | NP_006614.2:n.412-21del |