Linked Data
ClinVar Variation Id:
805963
ClinVar RCV Id:
RCV000993814
dbSNP Id:
rs761291714
ExAC:
6:100006295 T / TA
gnomAD v2:
6-100006295-T-TA
gnomAD v3:
6-99558419-T-TA
gnomAD v4:
6-99558419-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99558432dup , CM000668.2:g.99558432dup | GRCh38 |
| NC_000006.11:g.100006308dup , CM000668.1:g.100006308dup | GRCh37 |
| NC_000006.10:g.100113029dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520429.6:c.346+77dup (CCNC) MANE Select | ENSP00000428982.1:n.346+77dup | |
| ENST00000607332.2:n.552-9134dup (TSTD3) | ||
| ENST00000623858.2:n.552-26448dup (TSTD3) | ||
| ENST00000651400.1:n.336-17221dup (TSTD3) | ||
| ENST00000326298.8:c.346+77dup (CCNC) | ENSP00000319027.4:n.346+77dup | |
| ENST00000369217.8:c.487+77dup (CCNC) | ENSP00000428472.1:n.487+77dup | |
| ENST00000369220.8:c.346+77dup (CCNC) | ENSP00000358222.4:n.346+77dup | |
| ENST00000482541.2:c.423dup (CCNC) | ENSP00000417072.2:p.Ser142Ter | |
| ENST00000484049.6:c.342+81dup (CCNC) | ENSP00000430718.1:n.342+81dup | |
| ENST00000486428.6:c.184+77dup (CCNC) | ENSP00000430077.1:n.184+77dup | |
| ENST00000518714.5:c.346+77dup (CCNC) | ENSP00000430294.1:n.346+77dup | |
| ENST00000520371.5:c.346+77dup (CCNC) | ENSP00000430381.1:n.346+77dup | |
| ENST00000520429.5:c.346+77dup (CCNC) | ENSP00000428982.1:n.346+77dup | |
| ENST00000521017.5:n.447+77dup (CCNC) | ||
| ENST00000523310.1:n.475dup (CCNC) | ||
| ENST00000523639.5:n.586+77dup (CCNC) | ||
| ENST00000523799.5:c.91+77dup (CCNC) | ENSP00000430014.1:n.91+77dup | |
| ENST00000523961.5:c.*111+77dup (CCNC) | ENSP00000428577.1:n.*111+77dup | |
| ENST00000523985.5:c.91+77dup (CCNC) | ENSP00000430119.1:n.91+77dup | |
| ENST00000524049.5:c.91+77dup (CCNC) | ENSP00000427885.1:n.91+77dup | |
| ENST00000627680.2:c.346+77dup (CCNC) | ENSP00000487040.1:n.346+77dup | |
| NM_001013399.1:c.91+77dup (CCNC) | NP_001013417.1:n.91+77dup | |
| NM_005190.3:c.346+77dup (CCNC) | NP_005181.2:n.346+77dup | |
| XM_006715594.1:c.346+77dup (CCNC) | XP_006715657.1:n.346+77dup | |
| XM_011536232.1:c.346+77dup (CCNC) | XP_011534534.1:n.346+77dup | |
| XR_942234.1:n.701-20030dup (TSTD3) | ||
| NM_001363537.1:c.346+77dup (CCNC) | NP_001350466.1:n.346+77dup | |
| XM_011536232.3:c.346+77dup (CCNC) | XP_011534534.1:n.346+77dup | |
| XM_017011436.2:c.346+77dup (CCNC) | XP_016866925.1:n.346+77dup | |
| XR_001743062.2:n.661-20030dup (TSTD3) | ||
| XR_001743714.2:n.463+77dup (CCNC) | ||
| NM_005190.4:c.346+77dup (CCNC) MANE Select | NP_005181.2:n.346+77dup | |
| NM_001013399.2:c.91+77dup (CCNC) | NP_001013417.1:n.91+77dup | |
| NM_001363537.2:c.346+77dup (CCNC) | NP_001350466.1:n.346+77dup |