Canonical Allele Identifier: CA1658244447
Gene: CEP85L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.118672400_118672401delinsGA , CM000668.2:g.118672400_118672401delinsGA GRCh38
NC_000006.11:g.118993563_118993564delinsGA , CM000668.1:g.118993563_118993564delinsGA GRCh37
NC_000006.10:g.119100256_119100257delinsGA NCBI36
NG_021248.1:g.42675_42676delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368488.9:c.-27-19593_-27-19592delinsTC ENSP00000357474.5:n.-27-19593_-27-19592delinsTC
ENST00000392500.7:c.-138-7880_-138-7879delinsTC ENSP00000376288.3:n.-138-7880_-138-7879delinsTC
ENST00000434604.5:c.-27-19593_-27-19592delinsTC ENSP00000392131.1:n.-27-19593_-27-19592delinsTC
NM_001178035.1:c.-27-19593_-27-19592delinsTC NP_001171506.1:n.-27-19593_-27-19592delinsTC
XM_011535811.1:c.-234+37635_-234+37636delinsTC XP_011534113.1:n.-234+37635_-234+37636delinsTC
XR_942917.1:n.544+7250_544+7251delinsGA
XR_942918.1:n.545-6844_545-6843delinsGA
XM_011535810.2:c.-138-7880_-138-7879delinsTC XP_011534112.1:n.-138-7880_-138-7879delinsTC
XM_017010846.1:c.-138-7880_-138-7879delinsTC XP_016866335.1:n.-138-7880_-138-7879delinsTC
XM_024446429.1:c.-1650-7880_-1650-7879delinsTC XP_024302197.1:n.-1650-7880_-1650-7879delinsTC
XM_024446430.1:c.-1650-7880_-1650-7879delinsTC XP_024302198.1:n.-1650-7880_-1650-7879delinsTC
NM_001178035.2:c.-27-19593_-27-19592delinsTC NP_001171506.1:n.-27-19593_-27-19592delinsTC