Canonical Allele Identifier: CA658657610

Gene: PLN CEP85L

Linked Data

• ClinVar Variation Id: 464268
• ClinVar RCV Id: RCV000550821 ; RCV001575715
• dbSNP Id: rs1554219865
• MyVariant Identifiers: chr6:g.118880216_118880236dup (hg19) ; chr6:g.118559053_118559073dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118559053_118559073dup , CM000668.2:g.118559053_118559073dup	GRCh38
NC_000006.11:g.118880216_118880236dup , CM000668.1:g.118880216_118880236dup	GRCh37
NC_000006.10:g.118986909_118986929dup	NCBI36
NG_009082.1:g.15775_15795dup , LRG_390:g.15775_15795dup
NG_021248.1:g.156007_156027dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357525.6:c.132_152dup (PLN) MANE Select	ENSP00000350132.5:p.Leu51_Leu52insIleCysIleIleValMetLeu
ENST00000368491.8:c.1020+6460_1020+6480dup (CEP85L) MANE Select	ENSP00000357477.3:n.1020+6460_1020+6480dup
ENST00000357525.5:c.132_152dup (PLN)	ENSP00000350132.5:p.Leu51_Leu52insIleCysIleIleValMetLeu
ENST00000360290.7:c.714+6460_714+6480dup (CEP85L)	ENSP00000353434.3:n.714+6460_714+6480dup
ENST00000368488.9:c.1029+6460_1029+6480dup (CEP85L)	ENSP00000357474.5:n.1029+6460_1029+6480dup
ENST00000368491.7:c.1020+6460_1020+6480dup (CEP85L)	ENSP00000357477.3:n.1020+6460_1020+6480dup
ENST00000392500.7:c.1029+6460_1029+6480dup (CEP85L)	ENSP00000376288.3:n.1029+6460_1029+6480dup
ENST00000419517.2:c.1020+6460_1020+6480dup (CEP85L)	ENSP00000393317.2:n.1020+6460_1020+6480dup
ENST00000434604.5:c.1029+6460_1029+6480dup (CEP85L)	ENSP00000392131.1:n.1029+6460_1029+6480dup
NM_001042475.2:c.1020+6460_1020+6480dup (CEP85L)	NP_001035940.1:n.1020+6460_1020+6480dup
NM_001178035.1:c.1029+6460_1029+6480dup (CEP85L)	NP_001171506.1:n.1029+6460_1029+6480dup
NM_002667.3:c.132_152dup , LRG_390t1:c.132_152dup (PLN)	NP_002658.1:p.Leu51_Leu52insIleCysIleIleValMetLeu
NM_206921.2:c.1020+6460_1020+6480dup (CEP85L)	NP_996804.2:n.1020+6460_1020+6480dup
XM_005266970.1:c.714+6460_714+6480dup (CEP85L)	XP_005267027.1:n.714+6460_714+6480dup
XM_005266971.1:c.714+6460_714+6480dup (CEP85L)	XP_005267028.1:n.714+6460_714+6480dup
XM_006715475.2:c.714+6460_714+6480dup (CEP85L)	XP_006715538.1:n.714+6460_714+6480dup
XM_011535808.1:c.1029+6460_1029+6480dup (CEP85L)	XP_011534110.1:n.1029+6460_1029+6480dup
XM_011535809.1:c.1020+6460_1020+6480dup (CEP85L)	XP_011534111.1:n.1020+6460_1020+6480dup
XM_011535810.1:c.1029+6460_1029+6480dup (CEP85L)	XP_011534112.1:n.1029+6460_1029+6480dup
XM_011535811.1:c.714+6460_714+6480dup (CEP85L)	XP_011534113.1:n.714+6460_714+6480dup
XM_011535812.1:c.-67+4867_-67+4887dup (CEP85L)	XP_011534114.1:n.-67+4867_-67+4887dup
NM_002667.4:c.132_152dup (PLN)	NP_002658.1:p.Leu51_Leu52insIleCysIleIleValMetLeu
XM_006715475.4:c.714+6460_714+6480dup (CEP85L)	XP_006715538.1:n.714+6460_714+6480dup
XM_011535809.2:c.1020+6460_1020+6480dup (CEP85L)	XP_011534111.1:n.1020+6460_1020+6480dup
XM_011535810.2:c.1029+6460_1029+6480dup (CEP85L)	XP_011534112.1:n.1029+6460_1029+6480dup
XM_017010846.1:c.1029+6460_1029+6480dup (CEP85L)	XP_016866335.1:n.1029+6460_1029+6480dup
XM_024446429.1:c.1020+6460_1020+6480dup (CEP85L)	XP_024302197.1:n.1020+6460_1020+6480dup
XM_024446430.1:c.1020+6460_1020+6480dup (CEP85L)	XP_024302198.1:n.1020+6460_1020+6480dup
NM_001042475.3:c.1020+6460_1020+6480dup (CEP85L) MANE Select	NP_001035940.1:n.1020+6460_1020+6480dup
NM_002667.5:c.132_152dup (PLN) MANE Select	NP_002658.1:p.Leu51_Leu52insIleCysIleIleValMetLeu
NM_206921.3:c.1020+6460_1020+6480dup (CEP85L)	NP_996804.2:n.1020+6460_1020+6480dup
NM_001178035.2:c.1029+6460_1029+6480dup (CEP85L)	NP_001171506.1:n.1029+6460_1029+6480dup