Linked Data
ClinVar Variation Id:
543069
ClinVar RCV Id:
RCV000653727
dbSNP Id:
rs759202471
ExAC:
19:42753018 GCGC / G
gnomAD v2:
19-42753018-GCGC-G
gnomAD v3:
19-42248866-GCGC-G
gnomAD v4:
19-42248866-GCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42248868_42248870del , CM000681.2:g.42248868_42248870del | GRCh38 |
| NC_000019.9:g.42753020_42753022del , CM000681.1:g.42753020_42753022del | GRCh37 |
| NC_000019.8:g.47444860_47444862del | NCBI36 |
| NG_042802.1:g.11296_11298del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222329.9:c.1243_1245del MANE Select | ENSP00000222329.3:p.Ala415del | |
| ENST00000222329.8:c.1243_1245del | ENSP00000222329.3:p.Ala415del | |
| ENST00000440177.6:c.1018_1020del | ENSP00000388173.2:p.Ala340del | |
| ENST00000594664.1:c.22+6109_22+6111del | ENSP00000470087.1:n.22+6109_22+6111del | |
| NM_001301035.1:c.1018_1020del | NP_001287964.1:p.Ala340del | |
| NM_001308402.1:c.1018_1020del | NP_001295331.1:p.Ala340del | |
| NM_001312656.1:c.1018_1020del | NP_001299585.1:p.Ala340del | |
| NM_006494.3:c.1243_1245del | NP_006485.2:p.Ala415del | |
| XM_011526612.1:c.1018_1020del | XP_011524914.1:p.Ala340del | |
| XM_011526613.1:c.1018_1020del | XP_011524915.1:p.Ala340del | |
| XM_017026468.1:c.1018_1020del | XP_016881957.1:p.Ala340del | |
| XM_017026469.1:c.1018_1020del | XP_016881958.1:p.Ala340del | |
| NM_006494.4:c.1243_1245del MANE Select | NP_006485.2:p.Ala415del | |
| NM_001308402.2:c.1018_1020del | NP_001295331.1:p.Ala340del | |
| NM_001312656.2:c.1018_1020del | NP_001299585.1:p.Ala340del | |
| NM_001301035.2:c.1018_1020del | NP_001287964.1:p.Ala340del |