Linked Data
ClinVar Variation Id:
2061645
ClinVar RCV Id:
RCV002942887
dbSNP Id:
rs777453246
ExAC:
17:42429374 AC / A
gnomAD v2:
17-42429374-AC-A
gnomAD v4:
17-44352006-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352012del , CM000679.2:g.44352012del | GRCh38 |
| NC_000017.10:g.42429380del , CM000679.1:g.42429380del | GRCh37 |
| NC_000017.9:g.39784906del | NCBI36 |
| NG_007886.1:g.11890del , LRG_661:g.11890del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1180-3del MANE Select | ENSP00000053867.2:n.1180-3del | |
| ENST00000639447.1:c.1136+260del | ENSP00000492014.1:n.1136+260del | |
| ENST00000053867.7:c.1180-3del | ENSP00000053867.2:n.1180-3del | |
| ENST00000586443.1:c.621-3del | ||
| ENST00000589265.5:c.709-3del | ENSP00000467616.1:n.709-3del | |
| NM_002087.3:c.1180-3del | NP_002078.1:n.1180-3del | |
| XM_005257253.1:c.1180-3del | XP_005257310.1:n.1180-3del | |
| XM_024450730.1:c.1180-3del | XP_024306498.1:n.1180-3del | |
| NM_002087.4:c.1180-3del MANE Select | NP_002078.1:n.1180-3del |