Linked Data
ClinVar Variation Id:
297950
dbSNP Id:
rs113541584
ExAC:
1:6529182 T / TTCCTCC
gnomAD v2:
1-6529182-T-TTCCTCC
gnomAD v3:
1-6469122-T-TTCCTCC
gnomAD v4:
1-6469122-T-TTCCTCC
MyVariant Identifiers:
chr1:g.6529183_6529188dupTCCTCC (hg19)
chr1:g.6529194_6529195insTCCTCC (hg19)
chr1:g.6529191_6529192insTCCTCC (hg19)
chr1:g.6529182_6529183insTCCTCC (hg19)
chr1:g.6469123_6469128dupTCCTCC (hg38)
chr1:g.6469134_6469135insTCCTCC (hg38)
chr1:g.6469131_6469132insTCCTCC (hg38)
chr1:g.6469122_6469123insTCCTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6469143_6469148dup , CM000663.2:g.6469143_6469148dup | GRCh38 |
| NC_000001.10:g.6529203_6529208dup , CM000663.1:g.6529203_6529208dup | GRCh37 |
| NC_000001.9:g.6451790_6451795dup | NCBI36 |
| NG_007978.1:g.55882_55887dup , LRG_262:g.55882_55887dup | |
| NG_029910.1:g.2068_2073dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.2163_2168dup | ENSP00000344570.5:p.Glu723_Gly724insGluGlu | |
| ENST00000377728.8:c.2163_2168dup MANE Select | ENSP00000366957.3:p.Glu723_Gly724insGluGlu | |
| ENST00000377740.5:c.2163_2168dup | ENSP00000366969.4:p.Glu723_Gly724insGluGlu | |
| ENST00000377748.6:c.2337_2342dup | ENSP00000366977.2:p.Glu781_Gly782insGluGlu | |
| ENST00000400913.6:c.2163_2168dup | ENSP00000383704.1:p.Glu723_Gly724insGluGlu | |
| ENST00000400915.8:c.2274_2279dup | ENSP00000383706.4:p.Glu760_Gly761insGluGlu | |
| ENST00000489097.6:n.2639_2644dup | ||
| ENST00000535355.6:c.2370_2375dup | ENSP00000441445.1:p.Glu792_Gly793insGluGlu | |
| ENST00000537245.6:c.2274_2279dup | ENSP00000439625.2:p.Glu760_Gly761insGluGlu | |
| ENST00000673471.2:c.2460_2465dup | ENSP00000500749.1:p.Glu822_Gly823insGluGlu | |
| ENST00000674790.1:c.*2375_*2380dup | ENSP00000502815.1:n.*2375_*2380dup | |
| ENST00000675123.1:c.2163_2168dup | ENSP00000502132.1:p.Glu723_Gly724insGluGlu | |
| ENST00000675139.1:n.234_239dup | ||
| ENST00000675548.1:c.*1991_*1996dup | ENSP00000502684.1:n.*1991_*1996dup | |
| ENST00000675694.1:c.2163_2168dup | ENSP00000501925.1:p.Glu723_Gly724insGluGlu | |
| ENST00000675976.1:c.36_41dup | ENSP00000501611.1:p.Glu14_Gly15insGluGlu | |
| ENST00000340850.9:c.2163_2168dup | ENSP00000344570.5:p.Glu723_Gly724insGluGlu | |
| ENST00000377725.5:c.2163_2168dup | ENSP00000366954.1:p.Glu723_Gly724insGluGlu | |
| ENST00000377728.7:c.2163_2168dup | ENSP00000366957.3:p.Glu723_Gly724insGluGlu | |
| ENST00000377732.5:c.2274_2279dup | ENSP00000366961.1:p.Glu760_Gly761insGluGlu | |
| ENST00000377740.4:c.2394_2399dup | ENSP00000366969.3:p.Glu800_Gly801insGluGlu | |
| ENST00000377748.5:c.2394_2399dup | ENSP00000366977.1:p.Glu800_Gly801insGluGlu | |
| ENST00000400913.5:c.2163_2168dup | ENSP00000383704.1:p.Glu723_Gly724insGluGlu | |
| ENST00000400915.7:c.2331_2336dup | ENSP00000383706.3:p.Glu779_Gly780insGluGlu | |
| ENST00000487949.4:n.1365_1370dup | ||
| ENST00000489097.5:n.2639_2644dup | ||
| ENST00000535355.5:c.2370_2375dup | ENSP00000441445.1:p.Glu792_Gly793insGluGlu | |
| ENST00000537245.5:c.2400_2405dup | ENSP00000439625.1:p.Glu802_Gly803insGluGlu | |
| NM_001042663.1:c.2331_2336dup | NP_001036128.1:p.Glu779_Gly780insGluGlu | |
| NM_001042664.1:c.2163_2168dup | NP_001036129.1:p.Glu723_Gly724insGluGlu | |
| NM_001042665.1:c.2163_2168dup | NP_001036130.1:p.Glu723_Gly724insGluGlu | |
| NM_001265592.1:c.2400_2405dup | NP_001252521.1:p.Glu802_Gly803insGluGlu | |
| NM_001265593.1:c.2370_2375dup | NP_001252522.1:p.Glu792_Gly793insGluGlu | |
| NM_001265594.1:c.2163_2168dup | NP_001252523.1:p.Glu723_Gly724insGluGlu | |
| NM_020631.4:c.2163_2168dup | NP_065682.2:p.Glu723_Gly724insGluGlu | |
| NM_198681.3:c.2394_2399dup | NP_941374.2:p.Glu800_Gly801insGluGlu | |
| NM_001042663.2:c.2331_2336dup | NP_001036128.1:p.Glu779_Gly780insGluGlu | |
| NM_001265594.2:c.2163_2168dup | NP_001252523.1:p.Glu723_Gly724insGluGlu | |
| NM_020631.5:c.2163_2168dup | NP_065682.2:p.Glu723_Gly724insGluGlu | |
| NM_001042663.3:c.2274_2279dup | NP_001036128.2:p.Glu760_Gly761insGluGlu | |
| NM_001265592.2:c.2274_2279dup | NP_001252521.2:p.Glu760_Gly761insGluGlu | |
| NM_020631.6:c.2163_2168dup MANE Select | NP_065682.2:p.Glu723_Gly724insGluGlu | |
| NM_198681.4:c.2163_2168dup | NP_941374.3:p.Glu723_Gly724insGluGlu |