Linked Data
ClinVar Variation Id:
5677
ClinVar RCV Id:
RCV000006031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32133667_32137711dup , CM000664.2:g.32133667_32137711dup | GRCh38 |
| NC_000002.11:g.32358736_32362780dup , CM000664.1:g.32358736_32362780dup | GRCh37 |
| NC_000002.10:g.32212240_32216284dup | NCBI36 |
| NG_008730.1:g.75057_79101dup , LRG_714:g.75057_79101dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704289.1:c.*906-2896_*1153+523dup | ||
| ENST00000315285.9:c.1246-2896_1493+523dup | ||
| ENST00000621856.2:c.1243-2896_1490+523dup | ||
| ENST00000642281.1:c.983-2896_1230+523dup | ||
| ENST00000642455.1:c.1147-2896_1394+523dup | ||
| ENST00000642751.1:c.1020-2896_1267+523dup | ||
| ENST00000642999.1:c.988-2896_1235+523dup | ||
| ENST00000643327.1:c.405-2896_560+523dup | ||
| ENST00000643334.1:c.826-2896_1073+523dup | ||
| ENST00000644408.1:c.1122-2896_1369+523dup | ||
| ENST00000644954.1:c.892-2896_1139+523dup | ||
| ENST00000645159.1:n.1983-2896_2230+523dup | ||
| ENST00000645671.1:c.696-2896_943+523dup | ||
| ENST00000645730.1:c.593-3442_672+523dup | ||
| ENST00000646082.1:c.892-2896_1139+523dup | ||
| ENST00000646571.1:c.1150-2896_1397+523dup | ||
| ENST00000647007.1:n.938-2896_1185+523dup | ||
| ENST00000647133.1:c.746-2896_993+523dup | ||
| ENST00000315285.7:c.1246-2896_1493+523dup | ||
| ENST00000345662.5:c.1150-2896_1397+523dup | ||
| ENST00000615843.4:c.1246-2896_1493+523dup | ||
| ENST00000621856.1:c.988-2896_1235+523dup | ||
| NM_014946.3:c.1246-2896_1493+523dup , LRG_714t1:c.1246-2896_1493+523dup | ||
| NM_199436.1:c.1150-2896_1397+523dup | ||
| XM_005264516.3:c.1243-2896_1490+523dup | ||
| XM_011533067.1:c.1246-2896_1493+523dup | ||
| NM_001363823.1:c.1243-2896_1490+523dup | ||
| NM_001363875.1:c.1147-2896_1394+523dup | ||
| XM_005264516.5:c.1243-2896_1490+523dup | ||
| XM_011533067.2:c.1246-2896_1493+523dup | ||
| XM_017004778.2:c.1150-2896_1397+523dup | ||
| NM_001363823.2:c.1243-2896_1490+523dup | ||
| NM_001363875.2:c.1147-2896_1394+523dup | ||
| NM_001377959.1:c.1150-2896_1397+523dup | ||
| NM_014946.4:c.1246-2896_1493+523dup | ||
| NM_199436.2:c.1150-2896_1397+523dup |