Linked Data
ClinVar Variation Id:
345254
ClinVar RCV Id:
RCV000291714
dbSNP Id:
rs886058496
gnomAD v3:
3-43720464-GA-G
gnomAD v4:
3-43720464-GA-G
MyVariant Identifiers:
chr3:g.43761958del (hg19)
chr3:g.43761957del (hg19)
chr3:g.43720466del (hg38)
chr3:g.43720465del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43720466del , CM000665.2:g.43720466del | GRCh38 |
| NC_000003.11:g.43761958del , CM000665.1:g.43761958del | GRCh37 |
| NC_000003.10:g.43736962del | NCBI36 |
| NG_007090.3:g.34584del | |
| NG_007090.5:g.34597del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454293.2:c.*29+1905del | ENSP00000412014.2:n.*29+1905del | |
| ENST00000463153.2:c.306+1905del | ||
| ENST00000643477.1:c.*2445del | ENSP00000496220.1:n.*2445del | |
| ENST00000644371.2:c.*1934del MANE Select | ENSP00000495778.1:n.*1934del | |
| ENST00000649763.1:c.*29+1905del | ENSP00000497701.1:n.*29+1905del | |
| ENST00000463153.1:n.309+1905del | ||
| NM_016006.4:c.*1934del | NP_057090.2:n.*1934del | |
| XM_011533779.1:c.*1934del | XP_011532081.1:n.*1934del | |
| XM_011533780.1:c.*1960del | XP_011532082.1:n.*1960del | |
| XR_940447.1:n.2929del | ||
| NM_001355186.1:c.*29+1905del | NP_001342115.1:n.*29+1905del | |
| NM_001365649.1:c.*1934del | NP_001352578.1:n.*1934del | |
| NM_001365650.1:c.*1960del | NP_001352579.1:n.*1960del | |
| NM_016006.5:c.*1934del | NP_057090.2:n.*1934del | |
| NR_158560.1:n.2995del | ||
| NM_001355186.2:c.*29+1905del | NP_001342115.1:n.*29+1905del | |
| NM_016006.6:c.*1934del MANE Select | NP_057090.2:n.*1934del |