Linked Data
ClinVar Variation Id:
99864
dbSNP Id:
rs281865189
ExAC:
12:88443059 G / GT
gnomAD v2:
12-88443059-G-GT
gnomAD v3:
12-88049282-G-GT
gnomAD v4:
12-88049282-G-GT
COSMIC:
COSM4671646
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88049289dup , CM000674.2:g.88049289dup | GRCh38 |
| NC_000012.11:g.88443066dup , CM000674.1:g.88443066dup | GRCh37 |
| NC_000012.10:g.86967197dup | NCBI36 |
| NG_008417.1:g.97934dup | |
| NG_008417.2:g.97934dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.7350dup (CEP290) | ENSP00000308021.8:p.Leu2451ThrfsTer8 | |
| ENST00000356891.4:c.*867dup (RLIG1) MANE Select | ENSP00000349358.3:n.*867dup | |
| ENST00000547691.8:c.4310dup (CEP290) | ||
| ENST00000552810.6:c.7341dup (CEP290) MANE Select | ENSP00000448012.1:p.Leu2448ThrfsTer8 | |
| ENST00000671777.2:n.1120dup (CEP290) | ||
| ENST00000672414.2:c.*5347dup (CEP290) | ENSP00000500729.1:n.*5347dup | |
| ENST00000672647.1:n.5701dup (CEP290) | ||
| ENST00000673058.2:c.7218dup (CEP290) | ENSP00000500665.2:p.Leu2407ThrfsTer8 | |
| ENST00000674712.1:n.868dup (CEP290) | ||
| ENST00000674889.1:n.4294dup (CEP290) | ||
| ENST00000674971.1:c.*298dup (CEP290) | ENSP00000502194.1:n.*298dup | |
| ENST00000675230.1:c.7320dup (CEP290) | ENSP00000502503.1:p.Leu2441ThrfsTer8 | |
| ENST00000675408.1:c.7176dup (CEP290) | ENSP00000502298.1:p.Leu2393ThrfsTer8 | |
| ENST00000675476.1:c.8202dup (CEP290) | ENSP00000502161.1:p.Leu2735ThrfsTer8 | |
| ENST00000675628.1:n.9323dup (CEP290) | ||
| ENST00000675794.1:c.*5512dup (CEP290) | ENSP00000502841.1:n.*5512dup | |
| ENST00000675833.1:c.8109dup (CEP290) | ENSP00000502559.1:p.Leu2704ThrfsTer8 | |
| ENST00000675894.1:n.3646dup (CEP290) | ||
| ENST00000676074.1:c.*298dup (CEP290) | ENSP00000502079.1:n.*298dup | |
| ENST00000676181.1:n.8024dup (CEP290) | ||
| ENST00000676190.1:n.3535dup (CEP290) | ||
| ENST00000676363.1:n.13067dup (CEP290) | ||
| ENST00000309041.11:c.7347dup (CEP290) | ENSP00000308021.7:p.Leu2450ThrfsTer8 | |
| ENST00000356891.3:c.*867dup (RLIG1) | ENSP00000349358.3:n.*867dup | |
| ENST00000547691.6:c.4521dup (CEP290) | ENSP00000446905.1:p.Leu1508ThrfsTer8 | |
| ENST00000550333.5:c.*1610dup (RLIG1) | ENSP00000448194.1:n.*1610dup | |
| ENST00000552810.5:c.7341dup (CEP290) | ENSP00000448012.1:p.Leu2448ThrfsTer8 | |
| NM_001009894.2:c.*867dup (RLIG1) | NP_001009894.2:n.*867dup | |
| NM_025114.3:c.7341dup (CEP290) | NP_079390.3:p.Leu2448ThrfsTer8 | |
| XM_011538756.1:c.8211dup (CEP290) | XP_011537058.1:p.Leu2738ThrfsTer8 | |
| XM_011538757.1:c.8211dup (CEP290) | XP_011537059.1:p.Leu2738ThrfsTer8 | |
| XM_011538758.1:c.8208dup (CEP290) | XP_011537060.1:p.Leu2737ThrfsTer8 | |
| XM_011538759.1:c.8202dup (CEP290) | XP_011537061.1:p.Leu2735ThrfsTer8 | |
| XM_011538760.1:c.8088dup (CEP290) | XP_011537062.1:p.Leu2697ThrfsTer8 | |
| XM_011538761.1:c.8046dup (CEP290) | XP_011537063.1:p.Leu2683ThrfsTer8 | |
| XM_011538762.1:c.7443dup (CEP290) | XP_011537064.1:p.Leu2482ThrfsTer8 | |
| XM_011538763.1:c.7350dup (CEP290) | XP_011537065.1:p.Leu2451ThrfsTer8 | |
| XM_011538766.1:c.6672dup (CEP290) | XP_011537068.1:p.Leu2225ThrfsTer8 | |
| XM_011538756.3:c.8211dup (CEP290) | XP_011537058.1:p.Leu2738ThrfsTer8 | |
| XM_011538757.3:c.8211dup (CEP290) | XP_011537059.1:p.Leu2738ThrfsTer8 | |
| XM_011538758.3:c.8208dup (CEP290) | XP_011537060.1:p.Leu2737ThrfsTer8 | |
| XM_011538759.2:c.8202dup (CEP290) | XP_011537061.1:p.Leu2735ThrfsTer8 | |
| XM_011538760.2:c.8088dup (CEP290) | XP_011537062.1:p.Leu2697ThrfsTer8 | |
| XM_011538761.2:c.8046dup (CEP290) | XP_011537063.1:p.Leu2683ThrfsTer8 | |
| XM_011538762.3:c.7443dup (CEP290) | XP_011537064.1:p.Leu2482ThrfsTer8 | |
| XM_011538763.3:c.7350dup (CEP290) | XP_011537065.1:p.Leu2451ThrfsTer8 | |
| XM_011538766.3:c.6672dup (CEP290) | XP_011537068.1:p.Leu2225ThrfsTer8 | |
| XM_017019980.2:c.8079dup (CEP290) | XP_016875469.1:p.Leu2694ThrfsTer8 | |
| XM_017019981.2:c.8037dup (CEP290) | XP_016875470.1:p.Leu2680ThrfsTer8 | |
| XM_017019983.2:c.7329dup (CEP290) | XP_016875472.1:p.Leu2444ThrfsTer8 | |
| NM_001009894.3:c.*867dup (RLIG1) MANE Select | NP_001009894.2:n.*867dup | |
| NM_025114.4:c.7341dup (CEP290) MANE Select | NP_079390.3:p.Leu2448ThrfsTer8 |