Linked Data
ClinVar Variation Id:
434369
ClinVar RCV Id:
RCV000500378
dbSNP Id:
rs1554247278
gnomAD v3:
6-156778204-ACCACCACCACCATGCCCACCACCT-A
gnomAD v4:
6-156778204-ACCACCACCACCATGCCCACCACCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.156778217_156778240del , CM000668.2:g.156778217_156778240del | GRCh38 |
| NC_000006.11:g.157099351_157099374del , CM000668.1:g.157099351_157099374del | GRCh37 |
| NC_000006.10:g.157141043_157141066del | NCBI36 |
| NG_032093.1:g.5288_5311del | |
| NG_032093.2:g.5288_5311del | |
| NG_066624.1:g.7192_7215del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350026.11:c.537_560del | ENSP00000055163.8:p.Ala180_His187del | |
| ENST00000414678.8:c.537_560del | ENSP00000412835.3:p.Ala180_His187del | |
| ENST00000637015.2:c.537_560del | ENSP00000489729.2:p.Ala180_His187del | |
| ENST00000346085.10:c.537_560del | ENSP00000344546.5:p.Ala180_His187del | |
| ENST00000350026.10:c.288_311del | ENSP00000055163.7:p.Ala97_His104del | |
| ENST00000636930.2:c.537_560del MANE Select | ENSP00000490491.2:p.Ala180_His187del | |
| ENST00000647938.1:c.288_311del | ENSP00000498155.1:p.Ala97_His104del | |
| ENST00000674298.1:c.277_300del | ||
| ENST00000346085.9:c.288_311del | ENSP00000344546.4:p.Ala97_His104del | |
| ENST00000350026.9:c.288_311del | ENSP00000055163.7:p.Ala97_His104del | |
| NM_017519.2:c.288_311del | NP_059989.2:p.Ala97_His104del | |
| NM_020732.3:c.288_311del | NP_065783.3:p.Ala97_His104del | |
| XM_005267069.3:c.288_311del | XP_005267126.2:p.Ala97_His104del | |
| XR_943148.1:n.177+18_177+41del | ||
| NM_001346813.1:c.288_311del | NP_001333742.1:p.Ala97_His104del | |
| XM_011535984.2:c.288_311del | XP_011534286.2:p.Ala97_His104del | |
| XM_017011103.2:c.288_311del | XP_016866592.1:p.Ala97_His104del | |
| XM_017011104.1:c.288_311del | XP_016866593.1:p.Ala97_His104del | |
| XM_017011105.2:c.288_311del | XP_016866594.1:p.Ala97_His104del | |
| XM_017011106.2:c.288_311del | XP_016866595.1:p.Ala97_His104del | |
| XM_017011107.2:c.288_311del | XP_016866596.1:p.Ala97_His104del | |
| XR_002956289.1:n.371_394del | ||
| NM_001371656.1:c.537_560del | NP_001358585.1:p.Ala180_His187del | |
| NM_001374820.1:c.537_560del | NP_001361749.1:p.Ala180_His187del | |
| NM_001374828.1:c.537_560del MANE Select | NP_001361757.1:p.Ala180_His187del | |
| NM_017519.3:c.537_560del | NP_059989.3:p.Ala180_His187del | |
| NR_163974.1:n.273+18_273+41del |