Linked Data
ClinVar Variation Id:
315908
ClinVar RCV Id:
RCV000288162
dbSNP Id:
rs531320636
gnomAD v2:
15-43015906-CTGTT-C
gnomAD v3:
15-42723708-CTGTT-C
gnomAD v4:
15-42723708-CTGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42723713_42723716del , CM000677.2:g.42723713_42723716del | GRCh38 |
| NC_000015.9:g.43015911_43015914del , CM000677.1:g.43015911_43015914del | GRCh37 |
| NC_000015.8:g.40803203_40803206del | NCBI36 |
| NG_012491.1:g.18508_18511del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.*779_*782del MANE Select | ENSP00000348564.3:n.*779_*782del | |
| ENST00000643434.1:c.*3530_*3533del | ENSP00000494699.1:n.*3530_*3533del | |
| ENST00000356231.3:c.*779_*782del | ENSP00000348564.3:n.*779_*782del | |
| ENST00000562465.5:c.2409_2412del | ENSP00000454246.1:n.2409_2412del | |
| ENST00000563604.1:n.1926_1929del | ||
| NM_138477.2:c.*779_*782del | NP_612486.2:n.*779_*782del | |
| XM_005254176.3:c.*779_*782del | XP_005254233.1:n.*779_*782del | |
| XM_011521270.1:c.*779_*782del | XP_011519572.1:n.*779_*782del | |
| XM_011521271.1:c.*779_*782del | XP_011519573.1:n.*779_*782del | |
| XM_011521274.1:c.*779_*782del | XP_011519576.1:n.*779_*782del | |
| XM_011521275.1:c.*779_*782del | XP_011519577.1:n.*779_*782del | |
| NM_138477.4:c.*779_*782del MANE Select | NP_612486.2:n.*779_*782del | |
| XM_005254176.5:c.*779_*782del | XP_005254233.1:n.*779_*782del | |
| XM_011521270.2:c.*779_*782del | XP_011519572.1:n.*779_*782del | |
| XM_011521271.2:c.*779_*782del | XP_011519573.1:n.*779_*782del | |
| XM_011521274.2:c.*779_*782del | XP_011519576.1:n.*779_*782del | |
| XR_001751104.1:n.4456_4459del | ||
| XR_001751105.1:n.4473_4476del |