Linked Data
ClinVar Variation Id:
5663
ClinVar RCV Id:
RCV000006017
dbSNP Id:
rs587777753
PubMed:
PMID:10699187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32087529dup , CM000664.2:g.32087529dup | GRCh38 |
| NC_000002.11:g.32312598dup , CM000664.1:g.32312598dup | GRCh37 |
| NC_000002.10:g.32166102dup | NCBI36 |
| NG_008730.1:g.28919dup , LRG_714:g.28919dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704289.1:c.*113dup | ENSP00000515816.1:n.*113dup | |
| ENST00000315285.9:c.453dup MANE Select | ENSP00000320885.3:p.Gly152ArgfsTer3 | |
| ENST00000621856.2:c.450dup | ENSP00000482496.2:p.Gly151ArgfsTer3 | |
| ENST00000642281.1:c.337dup | ||
| ENST00000642455.1:c.450dup | ENSP00000493827.1:p.Gly151ArgfsTer3 | |
| ENST00000642751.1:c.323dup | ||
| ENST00000642999.1:c.195dup | ENSP00000496589.1:p.Gly66ArgfsTer3 | |
| ENST00000643334.1:c.38dup | ||
| ENST00000644408.1:c.329dup | ||
| ENST00000644954.1:c.195dup | ENSP00000494312.1:p.Gly66ArgfsTer3 | |
| ENST00000645400.1:c.409dup | ENSP00000496306.1:n.409dup | |
| ENST00000645671.1:c.37-11267dup | ||
| ENST00000646082.1:c.287dup | ||
| ENST00000646571.1:c.453dup | ENSP00000495015.1:p.Gly152ArgfsTer3 | |
| ENST00000647007.1:n.150dup | ||
| ENST00000647133.1:c.28dup | ||
| ENST00000315285.7:c.453dup | ENSP00000320885.3:p.Gly152ArgfsTer3 | |
| ENST00000345662.5:c.453dup | ENSP00000340817.1:p.Gly152ArgfsTer3 | |
| ENST00000615843.4:c.453dup | ENSP00000480893.1:p.Gly152ArgfsTer3 | |
| ENST00000621856.1:c.195dup | ENSP00000482496.1:p.Gly66ArgfsTer3 | |
| NM_014946.3:c.453dup , LRG_714t1:c.453dup | NP_055761.2:p.Gly152ArgfsTer3 | |
| NM_199436.1:c.453dup | NP_955468.1:p.Gly152ArgfsTer3 | |
| XM_005264516.3:c.450dup | XP_005264573.1:p.Gly151ArgfsTer3 | |
| XM_011533067.1:c.453dup | XP_011531369.1:p.Gly152ArgfsTer3 | |
| NM_001363823.1:c.450dup | NP_001350752.1:p.Gly151ArgfsTer3 | |
| NM_001363875.1:c.450dup | NP_001350804.1:p.Gly151ArgfsTer3 | |
| XM_005264516.5:c.450dup | XP_005264573.1:p.Gly151ArgfsTer3 | |
| XM_011533067.2:c.453dup | XP_011531369.1:p.Gly152ArgfsTer3 | |
| XM_017004778.2:c.453dup | XP_016860267.1:p.Gly152ArgfsTer3 | |
| NM_001363823.2:c.450dup | NP_001350752.1:p.Gly151ArgfsTer3 | |
| NM_001363875.2:c.450dup | NP_001350804.1:p.Gly151ArgfsTer3 | |
| NM_001377959.1:c.453dup | NP_001364888.1:p.Gly152ArgfsTer3 | |
| NM_014946.4:c.453dup MANE Select | NP_055761.2:p.Gly152ArgfsTer3 | |
| NM_199436.2:c.453dup | NP_955468.1:p.Gly152ArgfsTer3 |