Linked Data
ClinVar Variation Id:
345274
ClinVar RCV Id:
RCV000287174
dbSNP Id:
rs542283317
gnomAD v2:
3-43763312-AACAG-A
gnomAD v3:
3-43721820-AACAG-A
gnomAD v4:
3-43721820-AACAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43721825_43721828del , CM000665.2:g.43721825_43721828del | GRCh38 |
| NC_000003.11:g.43763317_43763320del , CM000665.1:g.43763317_43763320del | GRCh37 |
| NC_000003.10:g.43738321_43738324del | NCBI36 |
| NG_007090.3:g.35943_35946del | |
| NG_007090.5:g.35956_35959del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454293.2:c.*29+3264_*29+3267del | ENSP00000412014.2:n.*29+3264_*29+3267del | |
| ENST00000463153.2:c.306+3264_306+3267del | ||
| ENST00000644371.2:c.*3293_*3296del MANE Select | ENSP00000495778.1:n.*3293_*3296del | |
| ENST00000649763.1:c.*29+3264_*29+3267del | ENSP00000497701.1:n.*29+3264_*29+3267del | |
| ENST00000463153.1:n.309+3264_309+3267del | ||
| NM_016006.4:c.*3293_*3296del | NP_057090.2:n.*3293_*3296del | |
| XM_011533779.1:c.*3293_*3296del | XP_011532081.1:n.*3293_*3296del | |
| XM_011533780.1:c.*3319_*3322del | XP_011532082.1:n.*3319_*3322del | |
| XR_940447.1:n.4288_4291del | ||
| NM_001355186.1:c.*29+3264_*29+3267del | NP_001342115.1:n.*29+3264_*29+3267del | |
| NM_001365649.1:c.*3293_*3296del | NP_001352578.1:n.*3293_*3296del | |
| NM_001365650.1:c.*3319_*3322del | NP_001352579.1:n.*3319_*3322del | |
| NM_016006.5:c.*3293_*3296del | NP_057090.2:n.*3293_*3296del | |
| NR_158560.1:n.4354_4357del | ||
| NM_001355186.2:c.*29+3264_*29+3267del | NP_001342115.1:n.*29+3264_*29+3267del | |
| NM_016006.6:c.*3293_*3296del MANE Select | NP_057090.2:n.*3293_*3296del |