Linked Data
ClinVar Variation Id:
246125
ClinVar RCV Id:
RCV000236683
dbSNP Id:
rs765274847
ExAC:
12:13722967 GCAAA / G
gnomAD v2:
12-13722967-GCAAA-G
gnomAD v3:
12-13570033-GCAAA-G
gnomAD v4:
12-13570033-GCAAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13570038_13570041del , CM000674.2:g.13570038_13570041del | GRCh38 |
| NC_000012.11:g.13722972_13722975del , CM000674.1:g.13722972_13722975del | GRCh37 |
| NC_000012.10:g.13614239_13614242del | NCBI36 |
| NG_031854.1:g.415052_415055del | |
| NG_031854.2:g.416976_416979del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.2172-20_2172-17del MANE Select | ENSP00000477455.1:n.2172-20_2172-17del | |
| ENST00000628166.2:n.432-20_432-17del | ||
| ENST00000637214.1:c.69+38566_69+38569del | ENSP00000489997.1:n.69+38566_69+38569del | |
| ENST00000609686.3:c.2172-20_2172-17del | ENSP00000477455.1:n.2172-20_2172-17del | |
| ENST00000628166.1:n.432-20_432-17del | ||
| NM_000834.3:c.2172-20_2172-17del | NP_000825.2:n.2172-20_2172-17del | |
| XM_005253351.2:c.-43-20_-43-17del | XP_005253408.1:n.-43-20_-43-17del | |
| XM_011520628.1:c.2172-20_2172-17del | XP_011518930.1:n.2172-20_2172-17del | |
| XM_011520629.1:c.2172-20_2172-17del | XP_011518931.1:n.2172-20_2172-17del | |
| XM_011520630.1:c.2172-20_2172-17del | XP_011518932.1:n.2172-20_2172-17del | |
| NM_000834.4:c.2172-20_2172-17del | NP_000825.2:n.2172-20_2172-17del | |
| XM_005253351.3:c.-43-20_-43-17del | XP_005253408.1:n.-43-20_-43-17del | |
| XM_011520628.2:c.2172-20_2172-17del | XP_011518930.1:n.2172-20_2172-17del | |
| XM_011520629.2:c.2172-20_2172-17del | XP_011518931.1:n.2172-20_2172-17del | |
| XM_017019219.2:c.2172-20_2172-17del | XP_016874708.1:n.2172-20_2172-17del | |
| NM_000834.5:c.2172-20_2172-17del MANE Select | NP_000825.2:n.2172-20_2172-17del |