Linked Data
ClinVar Variation Id:
292326
ClinVar RCV Id:
RCV000278550
dbSNP Id:
rs757178898
gnomAD v2:
1-120291471-TAAAC-T
gnomAD v3:
1-119748848-TAAAC-T
gnomAD v4:
1-119748848-TAAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119748852_119748855del , CM000663.2:g.119748852_119748855del | GRCh38 |
| NC_000001.10:g.120291475_120291478del , CM000663.1:g.120291475_120291478del | GRCh37 |
| NC_000001.9:g.120092998_120093001del | NCBI36 |
| NG_013348.1:g.25081_25084del , LRG_447:g.25081_25084del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.*6-11_*6-8del MANE Select | ENSP00000358414.3:n.*6-11_*6-8del | |
| ENST00000369406.7:c.*6-11_*6-8del | ENSP00000358414.3:n.*6-11_*6-8del | |
| ENST00000544913.2:c.*6-11_*6-8del | ENSP00000439495.2:n.*6-11_*6-8del | |
| NM_001166107.1:c.*6-11_*6-8del , LRG_447t2:c.*6-11_*6-8del | NP_001159579.1:n.*6-11_*6-8del | |
| NM_005518.3:c.*6-11_*6-8del , LRG_447t1:c.*6-11_*6-8del | NP_005509.1:n.*6-11_*6-8del | |
| XM_011541313.1:c.*6-11_*6-8del | XP_011539615.1:n.*6-11_*6-8del | |
| XM_011541313.2:c.*6-11_*6-8del | XP_011539615.1:n.*6-11_*6-8del | |
| NM_005518.4:c.*6-11_*6-8del MANE Select | NP_005509.1:n.*6-11_*6-8del |