Linked Data
ClinVar Variation Id:
2195581
ClinVar RCV Id:
RCV002628783
dbSNP Id:
rs765129142
gnomAD v2:
15-44876483-T-TCTCCAGCTC
gnomAD v4:
15-44584285-T-TCTCCAGCTC
MyVariant Identifiers:
chr15:g.44876483_44876484insCTCCAGCTC (hg19)
chr15:g.44584285_44584286insCTCCAGCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584294_44584302dup , CM000677.2:g.44584294_44584302dup | GRCh38 |
| NC_000015.9:g.44876492_44876500dup , CM000677.1:g.44876492_44876500dup | GRCh37 |
| NC_000015.8:g.42663784_42663792dup | NCBI36 |
| NG_008885.1:g.84385_84393dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5386_5394dup | ENSP00000453246.2:p.Glu1798_Lys1799insGluLeuGlu | |
| ENST00000561391.2:n.1614_1622dup | ||
| ENST00000682065.1:c.5242_5250dup | ENSP00000507025.1:p.Glu1750_Lys1751insGluLeuGlu | |
| ENST00000682460.1:c.*1643_*1651dup | ENSP00000508334.1:n.*1643_*1651dup | |
| ENST00000682495.1:c.*1878_*1886dup | ENSP00000507166.1:n.*1878_*1886dup | |
| ENST00000682669.1:c.5185_5193dup | ENSP00000507782.1:p.Glu1731_Lys1732insGluLeuGlu | |
| ENST00000683186.1:c.*2149_*2157dup | ENSP00000507268.1:n.*2149_*2157dup | |
| ENST00000683496.1:c.5386_5394dup | ENSP00000506968.1:p.Glu1798_Lys1799insGluLeuGlu | |
| ENST00000683734.1:c.5386_5394dup | ENSP00000508319.1:p.Glu1798_Lys1799insGluLeuGlu | |
| ENST00000683753.1:n.4432_4440dup | ||
| ENST00000684038.1:c.*1806_*1814dup | ENSP00000507141.1:n.*1806_*1814dup | |
| ENST00000684235.1:c.5386_5394dup | ENSP00000508295.1:p.Glu1798_Lys1799insGluLeuGlu | |
| ENST00000684676.1:c.5386_5394dup | ENSP00000506948.1:p.Glu1798_Lys1799insGluLeuGlu | |
| ENST00000261866.12:c.5386_5394dup MANE Select | ENSP00000261866.7:p.Glu1798_Lys1799insGluLeuGlu | |
| ENST00000261866.11:c.5386_5394dup | ENSP00000261866.7:p.Glu1798_Lys1799insGluLeuGlu | |
| ENST00000427534.6:c.5386_5394dup | ENSP00000396110.2:p.Glu1798_Lys1799insGluLeuGlu | |
| ENST00000535302.6:c.5386_5394dup | ENSP00000445278.2:p.Glu1798_Lys1799insGluLeuGlu | |
| ENST00000558319.5:c.5386_5394dup | ENSP00000453599.1:p.Glu1798_Lys1799insGluLeuGlu | |
| ENST00000558790.5:n.823_831dup | ||
| ENST00000559511.5:c.234_242dup | ||
| ENST00000559822.1:c.158_166dup | ||
| NM_001160227.1:c.5386_5394dup | NP_001153699.1:p.Glu1798_Lys1799insGluLeuGlu | |
| NM_025137.3:c.5386_5394dup | NP_079413.3:p.Glu1798_Lys1799insGluLeuGlu | |
| XM_005254695.3:c.5128_5136dup | XP_005254752.1:p.Glu1712_Lys1713insGluLeuGlu | |
| XM_006720700.1:c.5242_5250dup | XP_006720763.1:p.Glu1750_Lys1751insGluLeuGlu | |
| XM_017022634.1:c.5386_5394dup | XP_016878123.1:p.Glu1798_Lys1799insGluLeuGlu | |
| XM_017022636.1:c.2263_2271dup | XP_016878125.1:p.Glu757_Lys758insGluLeuGlu | |
| XR_931917.2:n.5440_5448dup | ||
| NM_025137.4:c.5386_5394dup MANE Select | NP_079413.3:p.Glu1798_Lys1799insGluLeuGlu | |
| NM_001160227.2:c.5386_5394dup | NP_001153699.1:p.Glu1798_Lys1799insGluLeuGlu |