Linked Data
dbSNP Id:
rs534109969
ExAC:
1:6530742 A / ACGGAG
gnomAD v2:
1-6530742-A-ACGGAG
gnomAD v3:
1-6470682-A-ACGGAG
gnomAD v4:
1-6470682-A-ACGGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6470684_6470688dup , CM000663.2:g.6470684_6470688dup | GRCh38 |
| NC_000001.10:g.6530744_6530748dup , CM000663.1:g.6530744_6530748dup | GRCh37 |
| NC_000001.9:g.6453331_6453335dup | NCBI36 |
| NG_007978.1:g.54323_54327dup , LRG_262:g.54323_54327dup | |
| NG_029910.1:g.509_513dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.1543-44_1543-40dup | ENSP00000344570.5:n.1543-44_1543-40dup | |
| ENST00000377728.8:c.1543-44_1543-40dup MANE Select | ENSP00000366957.3:n.1543-44_1543-40dup | |
| ENST00000377740.5:c.1543-44_1543-40dup | ENSP00000366969.4:n.1543-44_1543-40dup | |
| ENST00000377748.6:c.1717-44_1717-40dup | ENSP00000366977.2:n.1717-44_1717-40dup | |
| ENST00000400913.6:c.1543-44_1543-40dup | ENSP00000383704.1:n.1543-44_1543-40dup | |
| ENST00000400915.8:c.1654-44_1654-40dup | ENSP00000383706.4:n.1654-44_1654-40dup | |
| ENST00000489097.6:n.2019-44_2019-40dup | ||
| ENST00000535355.6:c.1750-44_1750-40dup | ENSP00000441445.1:n.1750-44_1750-40dup | |
| ENST00000537245.6:c.1654-44_1654-40dup | ENSP00000439625.2:n.1654-44_1654-40dup | |
| ENST00000673471.2:c.1840-44_1840-40dup | ENSP00000500749.1:n.1840-44_1840-40dup | |
| ENST00000674685.1:n.576-44_576-40dup | ||
| ENST00000674790.1:c.*1755-44_*1755-40dup | ENSP00000502815.1:n.*1755-44_*1755-40dup | |
| ENST00000674943.1:n.205-44_205-40dup | ||
| ENST00000675123.1:c.1543-44_1543-40dup | ENSP00000502132.1:n.1543-44_1543-40dup | |
| ENST00000675548.1:c.*1371-44_*1371-40dup | ENSP00000502684.1:n.*1371-44_*1371-40dup | |
| ENST00000675694.1:c.1543-44_1543-40dup | ENSP00000501925.1:n.1543-44_1543-40dup | |
| ENST00000676401.1:n.46_50dup | ||
| ENST00000340850.9:c.1543-44_1543-40dup | ENSP00000344570.5:n.1543-44_1543-40dup | |
| ENST00000377725.5:c.1543-44_1543-40dup | ENSP00000366954.1:n.1543-44_1543-40dup | |
| ENST00000377728.7:c.1543-44_1543-40dup | ENSP00000366957.3:n.1543-44_1543-40dup | |
| ENST00000377732.5:c.1654-44_1654-40dup | ENSP00000366961.1:n.1654-44_1654-40dup | |
| ENST00000377740.4:c.1774-44_1774-40dup | ENSP00000366969.3:n.1774-44_1774-40dup | |
| ENST00000377748.5:c.1774-44_1774-40dup | ENSP00000366977.1:n.1774-44_1774-40dup | |
| ENST00000400913.5:c.1543-44_1543-40dup | ENSP00000383704.1:n.1543-44_1543-40dup | |
| ENST00000400915.7:c.1711-44_1711-40dup | ENSP00000383706.3:n.1711-44_1711-40dup | |
| ENST00000487949.4:n.745-44_745-40dup | ||
| ENST00000489097.5:n.2019-44_2019-40dup | ||
| ENST00000535355.5:c.1750-44_1750-40dup | ENSP00000441445.1:n.1750-44_1750-40dup | |
| ENST00000537245.5:c.1780-44_1780-40dup | ENSP00000439625.1:n.1780-44_1780-40dup | |
| NM_001042663.1:c.1711-44_1711-40dup | NP_001036128.1:n.1711-44_1711-40dup | |
| NM_001042664.1:c.1543-44_1543-40dup | NP_001036129.1:n.1543-44_1543-40dup | |
| NM_001042665.1:c.1543-44_1543-40dup | NP_001036130.1:n.1543-44_1543-40dup | |
| NM_001265592.1:c.1780-44_1780-40dup | NP_001252521.1:n.1780-44_1780-40dup | |
| NM_001265593.1:c.1750-44_1750-40dup | NP_001252522.1:n.1750-44_1750-40dup | |
| NM_001265594.1:c.1543-44_1543-40dup | NP_001252523.1:n.1543-44_1543-40dup | |
| NM_020631.4:c.1543-44_1543-40dup | NP_065682.2:n.1543-44_1543-40dup | |
| NM_198681.3:c.1774-44_1774-40dup | NP_941374.2:n.1774-44_1774-40dup | |
| NM_001042663.2:c.1711-44_1711-40dup | NP_001036128.1:n.1711-44_1711-40dup | |
| NM_001265594.2:c.1543-44_1543-40dup | NP_001252523.1:n.1543-44_1543-40dup | |
| NM_020631.5:c.1543-44_1543-40dup | NP_065682.2:n.1543-44_1543-40dup | |
| NM_001042663.3:c.1654-44_1654-40dup | NP_001036128.2:n.1654-44_1654-40dup | |
| NM_001265592.2:c.1654-44_1654-40dup | NP_001252521.2:n.1654-44_1654-40dup | |
| NM_020631.6:c.1543-44_1543-40dup MANE Select | NP_065682.2:n.1543-44_1543-40dup | |
| NM_198681.4:c.1543-44_1543-40dup | NP_941374.3:n.1543-44_1543-40dup |