Linked Data
ClinVar Variation Id:
1942962
ClinVar RCV Id:
RCV002647066
gnomAD v4:
6-145735284-G-GCCGCCTCCTCGGCCGCCAGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145735287_145735307dup , CM000668.2:g.145735287_145735307dup | GRCh38 |
| NC_000006.11:g.146056423_146056443dup , CM000668.1:g.146056423_146056443dup | GRCh37 |
| NC_000006.10:g.146098116_146098136dup | NCBI36 |
| NG_012832.1:g.5551_5571dup | |
| NG_012832.2:g.5551_5571dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367519.9:c.194_214dup (EPM2A) MANE Select | ENSP00000356489.3:p.Ala71_Ala72insGluLeuA... | |
| ENST00000435470.2:c.194_214dup (EPM2A) | ENSP00000405913.2:p.Ala71_Ala72insGluLeuA... | |
| ENST00000611340.5:c.-114+691_-114+711dup (EPM2A) | ENSP00000480268.1:n.-114+691_-114+711dup | |
| ENST00000638262.1:c.194_214dup (EPM2A) | ENSP00000492876.1:p.Ala71_Ala72insGluLeuA... | |
| ENST00000639049.1:c.166_186dup (EPM2A) | ||
| ENST00000639423.1:c.-114+603_-114+623dup (EPM2A) | ENSP00000492701.1:n.-114+603_-114+623dup | |
| ENST00000639649.1:n.122_142dup (EPM2A) | ||
| ENST00000640297.1:n.210_230dup (EPM2A) | ||
| ENST00000640898.1:n.82+603_82+623dup (EPM2A) | ||
| ENST00000640980.1:c.-114+603_-114+623dup (EPM2A) | ENSP00000491191.1:n.-114+603_-114+623dup | |
| ENST00000367519.7:c.194_214dup (EPM2A) | ENSP00000356489.3:p.Ala71_Ala72insGluLeuA... | |
| ENST00000618445.4:c.194_214dup (EPM2A) | ENSP00000480339.1:p.Ala71_Ala72insGluLeuA... | |
| NM_001018041.1:c.194_214dup (EPM2A) | NP_001018051.1:p.Ala71_Ala72insGluLeuAlaA... | |
| NM_005670.3:c.194_214dup (EPM2A) | NP_005661.1:p.Ala71_Ala72insGluLeuAlaAlaG... | |
| NR_038246.1:n.52+367_52+387dup (EPM2A-DT) | ||
| XM_006715564.2:c.194_214dup (EPM2A) | XP_006715627.1:p.Ala71_Ala72insGluLeuAlaA... | |
| XM_011536113.1:c.194_214dup (EPM2A) | XP_011534415.1:p.Ala71_Ala72insGluLeuAlaA... | |
| XM_011536114.1:c.194_214dup (EPM2A) | XP_011534416.1:p.Ala71_Ala72insGluLeuAlaA... | |
| XM_011536115.1:c.194_214dup (EPM2A) | XP_011534417.1:p.Ala71_Ala72insGluLeuAlaA... | |
| NM_001360057.1:c.194_214dup (EPM2A) | NP_001346986.1:p.Ala71_Ala72insGluLeuAlaA... | |
| NM_001360064.1:c.-114+603_-114+623dup (EPM2A) | NP_001346993.1:n.-114+603_-114+623dup | |
| NM_001360071.1:c.-476_-456dup (EPM2A) | NP_001347000.1:n.-476_-456dup | |
| NR_153397.1:n.216_236dup (EPM2A) | ||
| NR_153398.1:n.114+603_114+623dup (EPM2A) | ||
| XM_011536113.2:c.194_214dup (EPM2A) | XP_011534415.1:p.Ala71_Ala72insGluLeuAlaA... | |
| XM_024446550.1:c.194_214dup (EPM2A) | XP_024302318.1:p.Ala71_Ala72insGluLeuAlaA... | |
| NM_005670.4:c.194_214dup (EPM2A) MANE Select | NP_005661.1:p.Ala71_Ala72insGluLeuAlaAlaG... | |
| NM_001018041.2:c.194_214dup (EPM2A) | NP_001018051.1:p.Ala71_Ala72insGluLeuAlaA... | |
| NM_001360057.2:c.194_214dup (EPM2A) | NP_001346986.1:p.Ala71_Ala72insGluLeuAlaA... | |
| NM_001360064.2:c.-114+603_-114+623dup (EPM2A) | NP_001346993.1:n.-114+603_-114+623dup | |
| NM_001360071.2:c.-476_-456dup (EPM2A) | NP_001347000.1:n.-476_-456dup | |
| NM_001368129.2:c.-430_-410dup (EPM2A) | NP_001355058.1:n.-430_-410dup | |
| NM_001368130.1:c.194_214dup (EPM2A) | NP_001355059.1:p.Ala71_Ala72insGluLeuAlaA... | |
| NM_001368131.1:c.-174_-154dup (EPM2A) | NP_001355060.1:n.-174_-154dup | |
| NR_153398.2:n.116+603_116+623dup (EPM2A) |