Linked Data
ClinVar Variation Id:
523068
ClinVar RCV Id:
RCV000626277
dbSNP Id:
rs1168463464
gnomAD v2:
1-114243488-T-TA
gnomAD v3:
1-113700866-T-TA
gnomAD v4:
1-113700866-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113700873dup , CM000663.2:g.113700873dup | GRCh38 |
| NC_000001.10:g.114243495dup , CM000663.1:g.114243495dup | GRCh37 |
| NC_000001.9:g.114045018dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369604.6:c.1973dup MANE Select | ENSP00000358617.1:p.Leu658PhefsTer10 | |
| ENST00000369598.5:c.1838dup | ENSP00000358611.1:p.Leu613PhefsTer10 | |
| ENST00000369600.5:c.1814dup | ENSP00000358613.1:p.Leu605PhefsTer10 | |
| ENST00000369604.5:c.1973dup | ENSP00000358617.1:p.Leu658PhefsTer10 | |
| ENST00000393357.6:c.1973dup | ENSP00000377025.2:p.Leu658PhefsTer10 | |
| ENST00000474926.5:n.3124dup | ||
| ENST00000481652.1:n.394dup | ||
| NM_006608.2:c.1973dup | NP_006599.2:p.Leu658PhefsTer10 | |
| XM_005270383.3:c.1973dup | XP_005270440.1:p.Leu658PhefsTer10 | |
| XM_005270384.3:c.1973dup | XP_005270441.1:p.Leu658PhefsTer10 | |
| XM_005270385.3:c.1886dup | XP_005270442.1:p.Leu629PhefsTer10 | |
| XM_005270387.1:c.1973dup | XP_005270444.1:p.Leu658PhefsTer10 | |
| XM_006710296.1:c.1847dup | XP_006710359.1:p.Leu616PhefsTer10 | |
| XM_006710297.2:c.1973dup | XP_006710360.1:p.Leu658PhefsTer10 | |
| XM_011540531.1:c.1973dup | XP_011538833.1:p.Leu658PhefsTer10 | |
| XM_011540532.1:c.1847dup | XP_011538834.1:p.Leu616PhefsTer10 | |
| XM_011540533.1:c.1838dup | XP_011538835.1:p.Leu613PhefsTer10 | |
| XM_011540534.1:c.1115dup | XP_011538836.1:p.Leu372PhefsTer10 | |
| NM_001323041.1:c.1973dup | NP_001309970.1:p.Leu658PhefsTer10 | |
| NM_001323042.1:c.1973dup | NP_001309971.1:p.Leu658PhefsTer10 | |
| NM_001323043.1:c.1973dup | NP_001309972.1:p.Leu658PhefsTer10 | |
| NM_001323044.1:c.1847dup | NP_001309973.1:p.Leu616PhefsTer10 | |
| NM_001323045.1:c.1847dup | NP_001309974.1:p.Leu616PhefsTer10 | |
| NM_001323046.1:c.1115dup | NP_001309975.1:p.Leu372PhefsTer10 | |
| NR_136564.1:n.2720dup | ||
| NR_136565.1:n.2361dup | ||
| NR_136566.1:n.2636dup | ||
| NR_136567.1:n.2521dup | ||
| NM_001323043.2:c.1973dup MANE Select | NP_001309972.1:p.Leu658PhefsTer10 | |
| NM_001323041.2:c.1973dup | NP_001309970.1:p.Leu658PhefsTer10 | |
| NM_001323042.2:c.1973dup | NP_001309971.1:p.Leu658PhefsTer10 | |
| NM_001323044.2:c.1847dup | NP_001309973.1:p.Leu616PhefsTer10 | |
| NM_001323045.2:c.1847dup | NP_001309974.1:p.Leu616PhefsTer10 | |
| NM_001323046.2:c.1115dup | NP_001309975.1:p.Leu372PhefsTer10 | |
| NM_006608.3:c.1973dup | NP_006599.2:p.Leu658PhefsTer10 | |
| NR_136564.2:n.2666dup | ||
| NR_136565.2:n.2307dup | ||
| NR_136566.2:n.2582dup | ||
| NR_136567.2:n.2467dup |