Linked Data
dbSNP Id:
rs1274379279
gnomAD v3:
6-118559162-G-GTA
gnomAD v4:
6-118559162-G-GTA
MyVariant Identifiers:
chr6:g.118880325_118880326insTA (hg19)
chr6:g.118559162_118559163insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118559165_118559166dup , CM000668.2:g.118559165_118559166dup | GRCh38 |
| NC_000006.11:g.118880328_118880329dup , CM000668.1:g.118880328_118880329dup | GRCh37 |
| NC_000006.10:g.118987021_118987022dup | NCBI36 |
| NG_009082.1:g.15887_15888dup , LRG_390:g.15887_15888dup | |
| NG_021248.1:g.155912_155913dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357525.6:c.*85_*86dup (PLN) MANE Select | ENSP00000350132.5:n.*85_*86dup | |
| ENST00000368491.8:c.1020+6365_1020+6366dup (CEP85L) MANE Select | ENSP00000357477.3:n.1020+6365_1020+6366dup | |
| ENST00000357525.5:c.*85_*86dup (PLN) | ENSP00000350132.5:n.*85_*86dup | |
| ENST00000360290.7:c.714+6365_714+6366dup (CEP85L) | ENSP00000353434.3:n.714+6365_714+6366dup | |
| ENST00000368488.9:c.1029+6365_1029+6366dup (CEP85L) | ENSP00000357474.5:n.1029+6365_1029+6366dup | |
| ENST00000368491.7:c.1020+6365_1020+6366dup (CEP85L) | ENSP00000357477.3:n.1020+6365_1020+6366dup | |
| ENST00000392500.7:c.1029+6365_1029+6366dup (CEP85L) | ENSP00000376288.3:n.1029+6365_1029+6366dup | |
| ENST00000419517.2:c.1020+6365_1020+6366dup (CEP85L) | ENSP00000393317.2:n.1020+6365_1020+6366dup | |
| ENST00000434604.5:c.1029+6365_1029+6366dup (CEP85L) | ENSP00000392131.1:n.1029+6365_1029+6366dup | |
| NM_001042475.2:c.1020+6365_1020+6366dup (CEP85L) | NP_001035940.1:n.1020+6365_1020+6366dup | |
| NM_001178035.1:c.1029+6365_1029+6366dup (CEP85L) | NP_001171506.1:n.1029+6365_1029+6366dup | |
| NM_002667.3:c.*85_*86dup , LRG_390t1:c.*85_*86dup (PLN) | NP_002658.1:n.*85_*86dup | |
| NM_206921.2:c.1020+6365_1020+6366dup (CEP85L) | NP_996804.2:n.1020+6365_1020+6366dup | |
| XM_005266970.1:c.714+6365_714+6366dup (CEP85L) | XP_005267027.1:n.714+6365_714+6366dup | |
| XM_005266971.1:c.714+6365_714+6366dup (CEP85L) | XP_005267028.1:n.714+6365_714+6366dup | |
| XM_006715475.2:c.714+6365_714+6366dup (CEP85L) | XP_006715538.1:n.714+6365_714+6366dup | |
| XM_011535808.1:c.1029+6365_1029+6366dup (CEP85L) | XP_011534110.1:n.1029+6365_1029+6366dup | |
| XM_011535809.1:c.1020+6365_1020+6366dup (CEP85L) | XP_011534111.1:n.1020+6365_1020+6366dup | |
| XM_011535810.1:c.1029+6365_1029+6366dup (CEP85L) | XP_011534112.1:n.1029+6365_1029+6366dup | |
| XM_011535811.1:c.714+6365_714+6366dup (CEP85L) | XP_011534113.1:n.714+6365_714+6366dup | |
| XM_011535812.1:c.-67+4772_-67+4773dup (CEP85L) | XP_011534114.1:n.-67+4772_-67+4773dup | |
| NM_002667.4:c.*85_*86dup (PLN) | NP_002658.1:n.*85_*86dup | |
| XM_006715475.4:c.714+6365_714+6366dup (CEP85L) | XP_006715538.1:n.714+6365_714+6366dup | |
| XM_011535809.2:c.1020+6365_1020+6366dup (CEP85L) | XP_011534111.1:n.1020+6365_1020+6366dup | |
| XM_011535810.2:c.1029+6365_1029+6366dup (CEP85L) | XP_011534112.1:n.1029+6365_1029+6366dup | |
| XM_017010846.1:c.1029+6365_1029+6366dup (CEP85L) | XP_016866335.1:n.1029+6365_1029+6366dup | |
| XM_024446429.1:c.1020+6365_1020+6366dup (CEP85L) | XP_024302197.1:n.1020+6365_1020+6366dup | |
| XM_024446430.1:c.1020+6365_1020+6366dup (CEP85L) | XP_024302198.1:n.1020+6365_1020+6366dup | |
| NM_001042475.3:c.1020+6365_1020+6366dup (CEP85L) MANE Select | NP_001035940.1:n.1020+6365_1020+6366dup | |
| NM_002667.5:c.*85_*86dup (PLN) MANE Select | NP_002658.1:n.*85_*86dup | |
| NM_206921.3:c.1020+6365_1020+6366dup (CEP85L) | NP_996804.2:n.1020+6365_1020+6366dup | |
| NM_001178035.2:c.1029+6365_1029+6366dup (CEP85L) | NP_001171506.1:n.1029+6365_1029+6366dup |