Linked Data
ClinVar Variation Id:
65758
ClinVar RCV Id:
RCV000055991
RCV000188779
RCV000193894
RCV000153783
RCV000585818
RCV000791409
RCV000991298
RCV000768059
RCV001563615
RCV002280097
RCV002313738
RCV002470742
RCV001264813
RCV002273952
dbSNP Id:
rs587778771
ExAC:
16:29825015 G / GC
gnomAD v2:
16-29825015-G-GC
gnomAD v3:
16-29813694-G-GC
gnomAD v4:
16-29813694-G-GC
MyVariant Identifiers:
chr16:g.29825024dup (hg19)
chr16:g.29825024dupC (hg19)
chr16:g.29825016_29825017insC (hg19)
chr16:g.29825015_29825016insC (hg19)
chr16:g.29813703dupC (hg38)
chr16:g.29813695_29813696insC (hg38)
chr16:g.29813694_29813695insC (hg38)
PubMed:
PMID:11179027
PMID:20301633
PMID:22101681
PMID:22120146
PMID:22131361
PMID:22209761
PMID:22243967
PMID:22399141
PMID:22623405
PMID:22782515
PMID:22845787
PMID:22870186
PMID:22875091
PMID:22877996
PMID:22985072
PMID:23077017
PMID:23077024
PMID:23077026
PMID:23126439
PMID:23180180
PMID:23182655
PMID:23343561
PMID:23532549
PMID:23535490
PMID:23768507
PMID:23771590
PMID:24074546
PMID:24370076
PMID:24609974
PMID:24661410
PMID:25457817
PMID:25502464
PMID:25522171
PMID:25595153
PMID:25667652
PMID:25915028
PMID:26384010
PMID:26446061
PMID:26544041
PMID:26561923
PMID:26598494
PMID:26621826
PMID:26717662
PMID:26876767
PMID:26993267
PMID:27123484
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29813703dup , CM000678.2:g.29813703dup | GRCh38 |
| NC_000016.9:g.29825024dup , CM000678.1:g.29825024dup | GRCh37 |
| NC_000016.8:g.29732525dup | NCBI36 |
| NG_032039.1:g.6616dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358758.12:c.649dup MANE Select | ENSP00000351608.7:p.Arg217ProfsTer8 | |
| ENST00000567551.2:c.339+310dup | ENSP00000489813.1:n.339+310dup | |
| ENST00000636019.1:n.105dup | ||
| ENST00000636131.1:c.649dup | ENSP00000490390.1:p.Arg217ProfsTer8 | |
| ENST00000636619.1:c.649dup | ENSP00000489669.1:p.Arg217ProfsTer8 | |
| ENST00000637064.1:c.649dup | ENSP00000490826.1:p.Arg217ProfsTer8 | |
| ENST00000637290.1:c.357dup | ENSP00000490278.1:p.Glu120ArgfsTer? | |
| ENST00000637403.1:c.649dup | ENSP00000489782.1:p.Arg217ProfsTer8 | |
| ENST00000637565.1:c.339+310dup | ENSP00000490207.1:n.339+310dup | |
| ENST00000647876.1:c.649dup | ENSP00000498021.1:p.Arg217ProfsTer8 | |
| ENST00000300797.7:c.649dup | ENSP00000300797.6:p.Arg217ProfsTer8 | |
| ENST00000358758.11:c.649dup | ENSP00000351608.7:p.Arg217ProfsTer8 | |
| ENST00000567551.1:n.470dup | ||
| ENST00000567659.3:c.649dup | ENSP00000456226.1:p.Arg217ProfsTer8 | |
| ENST00000572820.2:c.649dup | ENSP00000458291.2:p.Arg217ProfsTer8 | |
| ENST00000609618.2:c.649dup | ENSP00000476774.2:p.Arg217ProfsTer8 | |
| NM_001256442.1:c.649dup | NP_001243371.1:p.Arg217ProfsTer8 | |
| NM_001256443.1:c.649dup | NP_001243372.1:p.Arg217ProfsTer8 | |
| NM_145239.2:c.649dup | NP_660282.2:p.Arg217ProfsTer8 | |
| XM_011545715.1:c.649dup | XP_011544017.1:p.Arg217ProfsTer8 | |
| XM_011545716.1:c.649dup | XP_011544018.1:p.Arg217ProfsTer8 | |
| XM_011545717.1:c.649dup | XP_011544019.1:p.Arg217ProfsTer8 | |
| XM_011545718.1:c.649dup | XP_011544020.1:p.Arg217ProfsTer8 | |
| XM_011545715.3:c.649dup | XP_011544017.1:p.Arg217ProfsTer8 | |
| XM_017022887.2:c.649dup | XP_016878376.1:p.Arg217ProfsTer8 | |
| XM_017022888.2:c.649dup | XP_016878377.1:p.Arg217ProfsTer8 | |
| XM_017022889.2:c.649dup | XP_016878378.1:p.Arg217ProfsTer8 | |
| NM_145239.3:c.649dup MANE Select | NP_660282.2:p.Arg217ProfsTer8 | |
| NM_001256442.2:c.649dup | NP_001243371.1:p.Arg217ProfsTer8 | |
| NM_001256443.2:c.649dup | NP_001243372.1:p.Arg217ProfsTer8 |