Linked Data
ClinVar Variation Id:
66878
dbSNP Id:
rs863225024
gnomAD v3:
1-156138749-C-CG
gnomAD v4:
1-156138749-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138750dup , CM000663.2:g.156138750dup | GRCh38 |
| NC_000001.10:g.156108541dup , CM000663.1:g.156108541dup | GRCh37 |
| NC_000001.9:g.154375165dup | NCBI36 |
| NG_008692.2:g.61178dup , LRG_254:g.61178dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504687.7:c.1403dup | ENSP00000426535.3:p.Thr469AsnfsTer? | |
| ENST00000682650.1:c.1871dup | ENSP00000506904.1:p.Thr625AsnfsTer? | |
| ENST00000683032.1:c.1961dup | ENSP00000506771.1:p.Thr655AsnfsTer? | |
| ENST00000683773.1:n.163+143dup | ||
| ENST00000684195.1:c.*1053dup | ENSP00000508220.1:n.*1053dup | |
| ENST00000361308.9:c.1961dup | ENSP00000355292.6:p.Thr655AsnfsTer? | |
| ENST00000368300.9:c.1961dup MANE Select | ENSP00000357283.4:p.Thr655AsnfsTer? | |
| ENST00000674518.1:c.*1311dup | ENSP00000502261.1:n.*1311dup | |
| ENST00000674600.1:c.*1760dup | ENSP00000501666.1:n.*1760dup | |
| ENST00000675455.1:c.*1761dup | ENSP00000501795.1:n.*1761dup | |
| ENST00000675667.1:c.1961dup | ENSP00000501803.1:p.Thr655AsnfsTer? | |
| ENST00000675874.1:c.*1432dup | ENSP00000501851.1:n.*1432dup | |
| ENST00000675881.1:c.*972dup | ENSP00000501670.1:n.*972dup | |
| ENST00000675939.1:c.1961dup | ENSP00000502256.1:p.Thr655AsnfsTer? | |
| ENST00000675989.1:n.3564dup | ||
| ENST00000676208.1:c.*1064dup | ENSP00000502468.1:n.*1064dup | |
| ENST00000676385.2:c.1871dup | ENSP00000502091.1:p.Thr625AsnfsTer? | |
| ENST00000676434.1:c.*1716dup | ENSP00000501648.1:n.*1716dup | |
| ENST00000347559.6:c.1871dup | ENSP00000292304.3:p.Thr625AsnfsTer? | |
| ENST00000368299.7:c.1818+143dup | ENSP00000357282.3:n.1818+143dup | |
| ENST00000368300.8:c.1961dup | ENSP00000357283.4:p.Thr655AsnfsTer? | |
| ENST00000448611.6:c.1625dup | ENSP00000395597.2:p.Thr543AsnfsTer? | |
| ENST00000473598.6:c.1664dup | ENSP00000421821.1:p.Thr556AsnfsTer? | |
| ENST00000496738.5:n.2174dup | ||
| ENST00000506981.1:n.545dup | ||
| ENST00000508500.1:c.749dup | ENSP00000424977.1:p.Thr251AsnfsTer? | |
| NM_001257374.2:c.1625dup | NP_001244303.1:p.Thr543AsnfsTer? | |
| NM_001282626.1:c.1818+143dup | NP_001269555.1:n.1818+143dup | |
| NM_170707.3:c.1961dup | NP_733821.1:p.Thr655AsnfsTer? | |
| NM_170708.3:c.1871dup | NP_733822.1:p.Thr625AsnfsTer? | |
| XM_011509533.1:c.1625dup | XP_011507835.1:p.Thr543AsnfsTer? | |
| XM_011509534.1:c.1337dup | XP_011507836.1:p.Thr447AsnfsTer? | |
| XR_921781.1:n.2250dup | ||
| XM_011509534.2:c.1337dup | XP_011507836.1:p.Thr447AsnfsTer? | |
| XR_921781.2:n.2248dup | ||
| NM_170707.4:c.1961dup MANE Select | NP_733821.1:p.Thr655AsnfsTer? | |
| NM_001257374.3:c.1625dup | NP_001244303.1:p.Thr543AsnfsTer? | |
| NM_001282626.2:c.1818+143dup | NP_001269555.1:n.1818+143dup | |
| NM_170708.4:c.1871dup | NP_733822.1:p.Thr625AsnfsTer? |