Linked Data
ClinVar Variation Id:
44580
ClinVar RCV Id:
RCV000037582
RCV000183818
RCV000212833
RCV000233546
RCV000244830
RCV000491072
RCV001197004
dbSNP Id:
rs397516784
gnomAD v2:
6-118880119-TAAG-T
gnomAD v3:
6-118558956-TAAG-T
gnomAD v4:
6-118558956-TAAG-T
MyVariant Identifiers:
chr6:g.118880124_118880126del (hg19)
chr6:g.118880120_118880122del (hg19)
chr6:g.118558961_118558963del (hg38)
chr6:g.118558957_118558959del (hg38)
PubMed:
PMID:16432188
PMID:17010801
PMID:19324307
PMID:22155237
PMID:22427649
PMID:22707725
PMID:22820313
PMID:23349452
PMID:23568436
PMID:23785128
PMID:23871674
PMID:24503780
PMID:24732829
PMID:24909667
PMID:25157032
PMID:25700660
PMID:25775607
PMID:25923014
PMID:26970417
PMID:27450564
PMID:27532257
PMID:28759816
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118558961_118558963del , CM000668.2:g.118558961_118558963del | GRCh38 |
| NC_000006.11:g.118880124_118880126del , CM000668.1:g.118880124_118880126del | GRCh37 |
| NC_000006.10:g.118986817_118986819del | NCBI36 |
| NG_009082.1:g.15683_15685del , LRG_390:g.15683_15685del | |
| NG_021248.1:g.156117_156119del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357525.6:c.40_42del (PLN) MANE Select | ENSP00000350132.5:p.Arg14del | |
| ENST00000368491.8:c.1020+6570_1020+6572del (CEP85L) MANE Select | ENSP00000357477.3:n.1020+6570_1020+6572de... | |
| ENST00000357525.5:c.40_42del (PLN) | ENSP00000350132.5:p.Arg14del | |
| ENST00000360290.7:c.714+6570_714+6572del (CEP85L) | ENSP00000353434.3:n.714+6570_714+6572del | |
| ENST00000368488.9:c.1029+6570_1029+6572del (CEP85L) | ENSP00000357474.5:n.1029+6570_1029+6572de... | |
| ENST00000368491.7:c.1020+6570_1020+6572del (CEP85L) | ENSP00000357477.3:n.1020+6570_1020+6572de... | |
| ENST00000392500.7:c.1029+6570_1029+6572del (CEP85L) | ENSP00000376288.3:n.1029+6570_1029+6572de... | |
| ENST00000419517.2:c.1020+6570_1020+6572del (CEP85L) | ENSP00000393317.2:n.1020+6570_1020+6572de... | |
| ENST00000434604.5:c.1029+6570_1029+6572del (CEP85L) | ENSP00000392131.1:n.1029+6570_1029+6572de... | |
| NM_001042475.2:c.1020+6570_1020+6572del (CEP85L) | NP_001035940.1:n.1020+6570_1020+6572del | |
| NM_001178035.1:c.1029+6570_1029+6572del (CEP85L) | NP_001171506.1:n.1029+6570_1029+6572del | |
| NM_002667.3:c.40_42del , LRG_390t1:c.40_42del (PLN) | NP_002658.1:p.Arg14del | |
| NM_206921.2:c.1020+6570_1020+6572del (CEP85L) | NP_996804.2:n.1020+6570_1020+6572del | |
| XM_005266970.1:c.714+6570_714+6572del (CEP85L) | XP_005267027.1:n.714+6570_714+6572del | |
| XM_005266971.1:c.714+6570_714+6572del (CEP85L) | XP_005267028.1:n.714+6570_714+6572del | |
| XM_006715475.2:c.714+6570_714+6572del (CEP85L) | XP_006715538.1:n.714+6570_714+6572del | |
| XM_011535808.1:c.1029+6570_1029+6572del (CEP85L) | XP_011534110.1:n.1029+6570_1029+6572del | |
| XM_011535809.1:c.1020+6570_1020+6572del (CEP85L) | XP_011534111.1:n.1020+6570_1020+6572del | |
| XM_011535810.1:c.1029+6570_1029+6572del (CEP85L) | XP_011534112.1:n.1029+6570_1029+6572del | |
| XM_011535811.1:c.714+6570_714+6572del (CEP85L) | XP_011534113.1:n.714+6570_714+6572del | |
| XM_011535812.1:c.-67+4977_-67+4979del (CEP85L) | XP_011534114.1:n.-67+4977_-67+4979del | |
| NM_002667.4:c.40_42del (PLN) | NP_002658.1:p.Arg14del | |
| XM_006715475.4:c.714+6570_714+6572del (CEP85L) | XP_006715538.1:n.714+6570_714+6572del | |
| XM_011535809.2:c.1020+6570_1020+6572del (CEP85L) | XP_011534111.1:n.1020+6570_1020+6572del | |
| XM_011535810.2:c.1029+6570_1029+6572del (CEP85L) | XP_011534112.1:n.1029+6570_1029+6572del | |
| XM_017010846.1:c.1029+6570_1029+6572del (CEP85L) | XP_016866335.1:n.1029+6570_1029+6572del | |
| XM_024446429.1:c.1020+6570_1020+6572del (CEP85L) | XP_024302197.1:n.1020+6570_1020+6572del | |
| XM_024446430.1:c.1020+6570_1020+6572del (CEP85L) | XP_024302198.1:n.1020+6570_1020+6572del | |
| NM_001042475.3:c.1020+6570_1020+6572del (CEP85L) MANE Select | NP_001035940.1:n.1020+6570_1020+6572del | |
| NM_002667.5:c.40_42del (PLN) MANE Select | NP_002658.1:p.Arg14del | |
| NM_206921.3:c.1020+6570_1020+6572del (CEP85L) | NP_996804.2:n.1020+6570_1020+6572del | |
| NM_001178035.2:c.1029+6570_1029+6572del (CEP85L) | NP_001171506.1:n.1029+6570_1029+6572del |