Linked Data
ClinVar Variation Id:
345443
ClinVar RCV Id:
RCV000301968
dbSNP Id:
rs11349487
gnomAD v2:
3-45959999-TA-T
gnomAD v3:
3-45918507-TA-T
gnomAD v4:
3-45918507-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45918509del , CM000665.2:g.45918509del | GRCh38 |
| NC_000003.11:g.45960001del , CM000665.1:g.45960001del | GRCh37 |
| NC_000003.10:g.45935005del | NCBI36 |
| NG_031955.1:g.82317del | |
| NG_033917.1:g.2217del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296137.7:c.*3257del MANE Select | ENSP00000296137.2:n.*3257del | |
| ENST00000296137.6:c.*3257del | ENSP00000296137.2:n.*3257del | |
| ENST00000433878.5:c.3713del | ||
| ENST00000535325.5:c.*3257del | ENSP00000441178.1:n.*3257del | |
| NM_024513.3:c.*3257del | NP_078789.2:n.*3257del | |
| XM_006713333.2:c.*3257del | XP_006713396.1:n.*3257del | |
| XM_006713334.2:c.*3257del | XP_006713397.1:n.*3257del | |
| XM_011534111.1:c.*3257del | XP_011532413.1:n.*3257del | |
| XR_245157.1:n.7562del | ||
| XM_006713333.3:c.*3257del | XP_006713396.1:n.*3257del | |
| XM_006713334.3:c.*3257del | XP_006713397.1:n.*3257del | |
| XM_011534111.3:c.*3257del | XP_011532413.1:n.*3257del | |
| NM_024513.4:c.*3257del MANE Select | NP_078789.2:n.*3257del | |
| NM_001386421.1:c.*3257del | NP_001373350.1:n.*3257del | |
| NM_001386422.1:c.*3257del | NP_001373351.1:n.*3257del | |
| NM_001386423.1:c.*3257del | NP_001373352.1:n.*3257del | |
| NM_001386425.1:c.*524del | NP_001373354.1:n.*524del | |
| NM_001386426.1:c.*3257del | NP_001373355.1:n.*3257del | |
| NM_001386427.1:c.*3257del | NP_001373356.1:n.*3257del | |
| NM_001386429.1:c.*528del | NP_001373358.1:n.*528del | |
| NM_001386430.1:c.*3257del | NP_001373359.1:n.*3257del | |
| NR_170107.1:n.7562del |