Canonical Allele Identifier: CA1658244435

Gene: CEP85L

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118672364_118672370delinsATTAAAG , CM000668.2:g.118672364_118672370delinsATTAAAG	GRCh38
NC_000006.11:g.118993527_118993533delinsATTAAAG , CM000668.1:g.118993527_118993533delinsATTAAAG	GRCh37
NC_000006.10:g.119100220_119100226delinsATTAAAG	NCBI36
NG_021248.1:g.42706_42712delinsCTTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368488.9:c.-27-19562_-27-19556delinsCTTTAAT	ENSP00000357474.5:n.-27-19562_-27-19556delinsCTTTAAT
ENST00000392500.7:c.-138-7849_-138-7843delinsCTTTAAT	ENSP00000376288.3:n.-138-7849_-138-7843delinsCTTTAAT
ENST00000434604.5:c.-27-19562_-27-19556delinsCTTTAAT	ENSP00000392131.1:n.-27-19562_-27-19556delinsCTTTAAT
NM_001178035.1:c.-27-19562_-27-19556delinsCTTTAAT	NP_001171506.1:n.-27-19562_-27-19556delinsCTTTAAT
XM_011535811.1:c.-234+37666_-234+37672delinsCTTTAAT	XP_011534113.1:n.-234+37666_-234+37672delinsCTTTAAT
XR_942917.1:n.544+7214_544+7220delinsATTAAAG
XR_942918.1:n.545-6880_545-6874delinsATTAAAG
XM_011535810.2:c.-138-7849_-138-7843delinsCTTTAAT	XP_011534112.1:n.-138-7849_-138-7843delinsCTTTAAT
XM_017010846.1:c.-138-7849_-138-7843delinsCTTTAAT	XP_016866335.1:n.-138-7849_-138-7843delinsCTTTAAT
XM_024446429.1:c.-1650-7849_-1650-7843delinsCTTTAAT	XP_024302197.1:n.-1650-7849_-1650-7843delinsCTTTAAT
XM_024446430.1:c.-1650-7849_-1650-7843delinsCTTTAAT	XP_024302198.1:n.-1650-7849_-1650-7843delinsCTTTAAT
NM_001178035.2:c.-27-19562_-27-19556delinsCTTTAAT	NP_001171506.1:n.-27-19562_-27-19556delinsCTTTAAT