Linked Data
ClinVar Variation Id:
161527
ClinVar RCV Id:
RCV000149062
dbSNP Id:
rs193920985
COSMIC:
COSM1178768
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61419947dup , CM000673.2:g.61419947dup | GRCh38 |
| NC_000011.9:g.61187419dup , CM000673.1:g.61187419dup | GRCh37 |
| NC_000011.8:g.60943995dup | NCBI36 |
| NG_051815.1:g.15046dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439958.8:c.523+2dup MANE Select | ENSP00000397203.3:n.523+2dup | |
| ENST00000340437.8:c.654dup | ENSP00000345412.4:p.Glu219Ter | |
| ENST00000394888.8:c.525dup | ENSP00000378352.4:p.Glu176Ter | |
| ENST00000413232.5:c.523+2dup | ENSP00000393828.1:n.523+2dup | |
| ENST00000439958.7:c.523+2dup | ENSP00000397203.3:n.523+2dup | |
| ENST00000448745.5:c.523+2dup | ENSP00000407394.1:n.523+2dup | |
| ENST00000477890.6:c.523+2dup | ENSP00000437860.1:n.523+2dup | |
| ENST00000535222.5:c.*294+2dup | ENSP00000446193.1:n.*294+2dup | |
| ENST00000537162.5:c.*285dup | ENSP00000442819.1:n.*285dup | |
| ENST00000537641.5:n.172-3428dup | ||
| ENST00000539952.5:c.523+2dup | ENSP00000438381.1:n.523+2dup | |
| ENST00000543545.5:c.*139dup | ENSP00000443504.1:n.*139dup | |
| ENST00000544585.5:c.523+2dup | ENSP00000437531.1:n.523+2dup | |
| ENST00000544669.5:n.1433dup | ||
| ENST00000544990.5:c.*137+2dup | ENSP00000440414.1:n.*137+2dup | |
| NM_001136040.2:c.525dup | NP_001129512.1:p.Glu176Ter | |
| NM_001142565.1:c.523+2dup | NP_001136037.1:n.523+2dup | |
| NM_024811.3:c.654dup | NP_079087.3:p.Glu219Ter | |
| XM_005274298.3:c.652+2dup | XP_005274355.1:n.652+2dup | |
| XM_005274299.3:c.525dup | XP_005274356.1:p.Glu176Ter | |
| XM_005274303.3:c.255dup | XP_005274360.1:p.Glu86Ter | |
| XM_011545257.1:c.654dup | XP_011543559.1:p.Glu219Ter | |
| XM_011545258.1:c.525dup | XP_011543560.1:p.Glu176Ter | |
| XM_011545259.1:c.523+2dup | XP_011543561.1:n.523+2dup | |
| XM_011545260.1:c.255dup | XP_011543562.1:p.Glu86Ter | |
| XM_011545261.1:c.255dup | XP_011543563.1:p.Glu86Ter | |
| XM_011545262.1:c.-178dup | XP_011543564.1:n.-178dup | |
| XM_011545263.1:c.-178dup | XP_011543565.1:n.-178dup | |
| XM_005274298.4:c.652+2dup | XP_005274355.1:n.652+2dup | |
| XM_005274299.4:c.525dup | XP_005274356.1:p.Glu176Ter | |
| XM_005274303.4:c.255dup | XP_005274360.1:p.Glu86Ter | |
| XM_011545257.2:c.654dup | XP_011543559.1:p.Glu219Ter | |
| XM_011545258.2:c.525dup | XP_011543560.1:p.Glu176Ter | |
| XM_011545259.2:c.523+2dup | XP_011543561.1:n.523+2dup | |
| XM_011545260.2:c.255dup | XP_011543562.1:p.Glu86Ter | |
| XM_011545261.2:c.255dup | XP_011543563.1:p.Glu86Ter | |
| XM_011545262.3:c.-178dup | XP_011543564.1:n.-178dup | |
| XM_011545263.2:c.-178dup | XP_011543565.1:n.-178dup | |
| XM_017018345.1:c.652+2dup | XP_016873834.1:n.652+2dup | |
| NM_001136040.3:c.525dup | NP_001129512.1:p.Glu176Ter | |
| NM_001142565.2:c.523+2dup | NP_001136037.1:n.523+2dup | |
| NM_001136040.4:c.525dup | NP_001129512.1:p.Glu176Ter | |
| NM_001142565.3:c.523+2dup MANE Select | NP_001136037.1:n.523+2dup | |
| NM_024811.4:c.654dup | NP_079087.3:p.Glu219Ter | |
| NR_165413.1:n.717+2dup | ||
| NR_165414.1:n.714+2dup | ||
| NR_165415.1:n.719dup | ||
| NR_165416.1:n.597+2dup | ||
| NR_165417.1:n.672dup | ||
| NR_165418.1:n.662+2dup | ||
| NR_165419.1:n.708dup | ||
| NR_165420.1:n.706+2dup |