Canonical Allele Identifier: CA1093656799

Gene: PLN CEP85L

Linked Data

• dbSNP Id: rs1779092004
• gnomAD v3: 6-118559308-G-GA
• gnomAD v4: 6-118559308-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118559308_118559309insA , CM000668.2:g.118559308_118559309insA	GRCh38
NC_000006.11:g.118880471_118880472insA , CM000668.1:g.118880471_118880472insA	GRCh37
NC_000006.10:g.118987164_118987165insA	NCBI36
NG_009082.1:g.16030_16031insA , LRG_390:g.16030_16031insA
NG_021248.1:g.155767_155768insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357525.6:c.*228_*229insA (PLN) MANE Select	ENSP00000350132.5:n.*228_*229insA
ENST00000368491.8:c.1020+6220_1020+6221insT (CEP85L) MANE Select	ENSP00000357477.3:n.1020+6220_1020+6221insT
ENST00000357525.5:c.*228_*229insA (PLN)	ENSP00000350132.5:n.*228_*229insA
ENST00000360290.7:c.714+6220_714+6221insT (CEP85L)	ENSP00000353434.3:n.714+6220_714+6221insT
ENST00000368488.9:c.1029+6220_1029+6221insT (CEP85L)	ENSP00000357474.5:n.1029+6220_1029+6221insT
ENST00000368491.7:c.1020+6220_1020+6221insT (CEP85L)	ENSP00000357477.3:n.1020+6220_1020+6221insT
ENST00000392500.7:c.1029+6220_1029+6221insT (CEP85L)	ENSP00000376288.3:n.1029+6220_1029+6221insT
ENST00000419517.2:c.1020+6220_1020+6221insT (CEP85L)	ENSP00000393317.2:n.1020+6220_1020+6221insT
ENST00000434604.5:c.1029+6220_1029+6221insT (CEP85L)	ENSP00000392131.1:n.1029+6220_1029+6221insT
NM_001042475.2:c.1020+6220_1020+6221insT (CEP85L)	NP_001035940.1:n.1020+6220_1020+6221insT
NM_001178035.1:c.1029+6220_1029+6221insT (CEP85L)	NP_001171506.1:n.1029+6220_1029+6221insT
NM_002667.3:c.*228_*229insA , LRG_390t1:c.*228_*229insA (PLN)	NP_002658.1:n.*228_*229insA
NM_206921.2:c.1020+6220_1020+6221insT (CEP85L)	NP_996804.2:n.1020+6220_1020+6221insT
XM_005266970.1:c.714+6220_714+6221insT (CEP85L)	XP_005267027.1:n.714+6220_714+6221insT
XM_005266971.1:c.714+6220_714+6221insT (CEP85L)	XP_005267028.1:n.714+6220_714+6221insT
XM_006715475.2:c.714+6220_714+6221insT (CEP85L)	XP_006715538.1:n.714+6220_714+6221insT
XM_011535808.1:c.1029+6220_1029+6221insT (CEP85L)	XP_011534110.1:n.1029+6220_1029+6221insT
XM_011535809.1:c.1020+6220_1020+6221insT (CEP85L)	XP_011534111.1:n.1020+6220_1020+6221insT
XM_011535810.1:c.1029+6220_1029+6221insT (CEP85L)	XP_011534112.1:n.1029+6220_1029+6221insT
XM_011535811.1:c.714+6220_714+6221insT (CEP85L)	XP_011534113.1:n.714+6220_714+6221insT
XM_011535812.1:c.-67+4627_-67+4628insT (CEP85L)	XP_011534114.1:n.-67+4627_-67+4628insT
NM_002667.4:c.*228_*229insA (PLN)	NP_002658.1:n.*228_*229insA
XM_006715475.4:c.714+6220_714+6221insT (CEP85L)	XP_006715538.1:n.714+6220_714+6221insT
XM_011535809.2:c.1020+6220_1020+6221insT (CEP85L)	XP_011534111.1:n.1020+6220_1020+6221insT
XM_011535810.2:c.1029+6220_1029+6221insT (CEP85L)	XP_011534112.1:n.1029+6220_1029+6221insT
XM_017010846.1:c.1029+6220_1029+6221insT (CEP85L)	XP_016866335.1:n.1029+6220_1029+6221insT
XM_024446429.1:c.1020+6220_1020+6221insT (CEP85L)	XP_024302197.1:n.1020+6220_1020+6221insT
XM_024446430.1:c.1020+6220_1020+6221insT (CEP85L)	XP_024302198.1:n.1020+6220_1020+6221insT
NM_001042475.3:c.1020+6220_1020+6221insT (CEP85L) MANE Select	NP_001035940.1:n.1020+6220_1020+6221insT
NM_002667.5:c.*228_*229insA (PLN) MANE Select	NP_002658.1:n.*228_*229insA
NM_206921.3:c.1020+6220_1020+6221insT (CEP85L)	NP_996804.2:n.1020+6220_1020+6221insT
NM_001178035.2:c.1029+6220_1029+6221insT (CEP85L)	NP_001171506.1:n.1029+6220_1029+6221insT