Linked Data
ClinVar Variation Id:
345456
ClinVar RCV Id:
RCV000380510
dbSNP Id:
rs58827981
gnomAD v2:
3-45960562-TA-T
gnomAD v3:
3-45919070-TA-T
gnomAD v4:
3-45919070-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45919085del , CM000665.2:g.45919085del | GRCh38 |
| NC_000003.11:g.45960577del , CM000665.1:g.45960577del | GRCh37 |
| NC_000003.10:g.45935581del | NCBI36 |
| NG_031955.1:g.81754del | |
| NG_033917.1:g.1654del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296137.7:c.*2694del MANE Select | ENSP00000296137.2:n.*2694del | |
| ENST00000296137.6:c.*2694del | ENSP00000296137.2:n.*2694del | |
| ENST00000433878.5:c.3156-6del | ||
| ENST00000535325.5:c.*2694del | ENSP00000441178.1:n.*2694del | |
| NM_024513.3:c.*2694del | NP_078789.2:n.*2694del | |
| XM_006713333.2:c.*2694del | XP_006713396.1:n.*2694del | |
| XM_006713334.2:c.*2694del | XP_006713397.1:n.*2694del | |
| XM_011534111.1:c.*2694del | XP_011532413.1:n.*2694del | |
| XR_245157.1:n.7005-6del | ||
| XM_006713333.3:c.*2694del | XP_006713396.1:n.*2694del | |
| XM_006713334.3:c.*2694del | XP_006713397.1:n.*2694del | |
| XM_011534111.3:c.*2694del | XP_011532413.1:n.*2694del | |
| NM_024513.4:c.*2694del MANE Select | NP_078789.2:n.*2694del | |
| NM_001386421.1:c.*2694del | NP_001373350.1:n.*2694del | |
| NM_001386422.1:c.*2694del | NP_001373351.1:n.*2694del | |
| NM_001386423.1:c.*2694del | NP_001373352.1:n.*2694del | |
| NM_001386425.1:c.4362-6del | NP_001373354.1:n.4362-6del | |
| NM_001386426.1:c.*2694del | NP_001373355.1:n.*2694del | |
| NM_001386427.1:c.*2694del | NP_001373356.1:n.*2694del | |
| NM_001386429.1:c.4252-6del | NP_001373358.1:n.4252-6del | |
| NM_001386430.1:c.*2694del | NP_001373359.1:n.*2694del | |
| NR_170107.1:n.7005-6del |