Linked Data
ClinVar Variation Id:
2926046
ClinVar RCV Id:
RCV003786332
dbSNP Id:
rs768845836
ExAC:
6:7583166 GAGA / G
gnomAD v2:
6-7583166-GAGA-G
gnomAD v3:
6-7582933-GAGA-G
gnomAD v4:
6-7582933-GAGA-G
MyVariant Identifiers:
chr6:g.7583167_7583169del (hg19)
chr6:g.7582935_7582937del (hg38)
chr6:g.7582934_7582936del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7582938_7582940del , CM000668.2:g.7582938_7582940del | GRCh38 |
| NC_000006.11:g.7583171_7583173del , CM000668.1:g.7583171_7583173del | GRCh37 |
| NC_000006.10:g.7528170_7528172del | NCBI36 |
| NG_008803.1:g.46302_46304del , LRG_423:g.46302_46304del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4347_4349del | ENSP00000518230.1:p.Lys1449del | |
| ENST00000379802.8:c.5676_5678del MANE Select | ENSP00000369129.3:p.Lys1892del | |
| ENST00000379802.7:c.5676_5678del | ENSP00000369129.3:p.Lys1892del | |
| ENST00000418664.2:c.3879_3881del | ENSP00000396591.2:p.Lys1293del | |
| NM_001008844.1:c.3879_3881del | NP_001008844.1:p.Lys1293del | |
| NM_004415.2:c.5676_5678del , LRG_423t1:c.5676_5678del | NP_004406.2:p.Lys1892del | |
| XM_011514323.1:c.4347_4349del | XP_011512625.1:p.Lys1449del | |
| NM_001008844.2:c.3879_3881del | NP_001008844.1:p.Lys1293del | |
| NM_001319034.1:c.4347_4349del | NP_001305963.1:p.Lys1449del | |
| NM_004415.3:c.5676_5678del | NP_004406.2:p.Lys1892del | |
| NM_004415.4:c.5676_5678del MANE Select | NP_004406.2:p.Lys1892del | |
| NM_001008844.3:c.3879_3881del | NP_001008844.1:p.Lys1293del | |
| NM_001319034.2:c.4347_4349del | NP_001305963.1:p.Lys1449del |