Linked Data
ClinVar Variation Id:
345995
dbSNP Id:
rs769133638
ExAC:
3:49162423 GC / G
gnomAD v2:
3-49162423-GC-G
gnomAD v3:
3-49124990-GC-G
gnomAD v4:
3-49124990-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49124995del , CM000665.2:g.49124995del | GRCh38 |
| NC_000003.11:g.49162428del , CM000665.1:g.49162428del | GRCh37 |
| NC_000003.10:g.49137432del | NCBI36 |
| NG_008094.1:g.13176del | |
| NG_054716.1:g.948del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2884+15del MANE Select | ENSP00000307156.4:n.2884+15del | |
| ENST00000305544.8:c.2884+15del | ENSP00000307156.4:n.2884+15del | |
| ENST00000418109.5:c.2884+15del | ENSP00000388325.1:n.2884+15del | |
| ENST00000462930.5:n.291+15del | ||
| ENST00000464891.5:n.617+15del | ||
| ENST00000483057.1:n.484+15del | ||
| ENST00000542580.1:n.199+15del | ||
| NM_002292.3:c.2884+15del | NP_002283.3:n.2884+15del | |
| XM_005265127.3:c.2884+15del | XP_005265184.1:n.2884+15del | |
| XM_005265127.4:c.2884+15del | XP_005265184.1:n.2884+15del | |
| NM_002292.4:c.2884+15del MANE Select | NP_002283.3:n.2884+15del |