Canonical Allele Identifier: CA1658244493
Gene: CEP85L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.118672494T= , CM000668.2:g.118672494T= GRCh38
NC_000006.11:g.118993657T= , CM000668.1:g.118993657T= GRCh37
NC_000006.10:g.119100350T= NCBI36
NG_021248.1:g.42582A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368488.9:c.-27-19686A= ENSP00000357474.5:n.-27-19686A=
ENST00000392500.7:c.-138-7973A= ENSP00000376288.3:n.-138-7973A=
ENST00000434604.5:c.-27-19686A= ENSP00000392131.1:n.-27-19686A=
NM_001178035.1:c.-27-19686A= NP_001171506.1:n.-27-19686A=
XM_011535811.1:c.-234+37542A= XP_011534113.1:n.-234+37542A=
XR_942917.1:n.544+7344T=
XR_942918.1:n.545-6750T=
XM_011535810.2:c.-138-7973A= XP_011534112.1:n.-138-7973A=
XM_017010846.1:c.-138-7973A= XP_016866335.1:n.-138-7973A=
XM_024446429.1:c.-1650-7973A= XP_024302197.1:n.-1650-7973A=
XM_024446430.1:c.-1650-7973A= XP_024302198.1:n.-1650-7973A=
NM_001178035.2:c.-27-19686A= NP_001171506.1:n.-27-19686A=