Canonical Allele Identifier: CA1658244437

Gene: CEP85L

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118672374_118672375delinsAT , CM000668.2:g.118672374_118672375delinsAT	GRCh38
NC_000006.11:g.118993537_118993538delinsAT , CM000668.1:g.118993537_118993538delinsAT	GRCh37
NC_000006.10:g.119100230_119100231delinsAT	NCBI36
NG_021248.1:g.42701_42702delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368488.9:c.-27-19567_-27-19566delinsAT	ENSP00000357474.5:n.-27-19567_-27-19566delinsAT
ENST00000392500.7:c.-138-7854_-138-7853delinsAT	ENSP00000376288.3:n.-138-7854_-138-7853delinsAT
ENST00000434604.5:c.-27-19567_-27-19566delinsAT	ENSP00000392131.1:n.-27-19567_-27-19566delinsAT
NM_001178035.1:c.-27-19567_-27-19566delinsAT	NP_001171506.1:n.-27-19567_-27-19566delinsAT
XM_011535811.1:c.-234+37661_-234+37662delinsAT	XP_011534113.1:n.-234+37661_-234+37662delinsAT
XR_942917.1:n.544+7224_544+7225delinsAT
XR_942918.1:n.545-6870_545-6869delinsAT
XM_011535810.2:c.-138-7854_-138-7853delinsAT	XP_011534112.1:n.-138-7854_-138-7853delinsAT
XM_017010846.1:c.-138-7854_-138-7853delinsAT	XP_016866335.1:n.-138-7854_-138-7853delinsAT
XM_024446429.1:c.-1650-7854_-1650-7853delinsAT	XP_024302197.1:n.-1650-7854_-1650-7853delinsAT
XM_024446430.1:c.-1650-7854_-1650-7853delinsAT	XP_024302198.1:n.-1650-7854_-1650-7853delinsAT
NM_001178035.2:c.-27-19567_-27-19566delinsAT	NP_001171506.1:n.-27-19567_-27-19566delinsAT