Canonical Allele Identifier: CA146542765

Gene: CEP85L

Linked Data

• dbSNP Id: rs766927685
• gnomAD v2: 6-118993527-ATTAAAG-A
• gnomAD v3: 6-118672364-ATTAAAG-A
• gnomAD v4: 6-118672364-ATTAAAG-A
• MyVariant Identifiers: chr6:g.118993528_118993533del (hg19) ; chr6:g.118672365_118672370del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118672369_118672374del , CM000668.2:g.118672369_118672374del	GRCh38
NC_000006.11:g.118993532_118993537del , CM000668.1:g.118993532_118993537del	GRCh37
NC_000006.10:g.119100225_119100230del	NCBI36
NG_021248.1:g.42706_42711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368488.9:c.-27-19562_-27-19557del	ENSP00000357474.5:n.-27-19562_-27-19557del
ENST00000392500.7:c.-138-7849_-138-7844del	ENSP00000376288.3:n.-138-7849_-138-7844del
ENST00000434604.5:c.-27-19562_-27-19557del	ENSP00000392131.1:n.-27-19562_-27-19557del
NM_001178035.1:c.-27-19562_-27-19557del	NP_001171506.1:n.-27-19562_-27-19557del
XM_011535811.1:c.-234+37666_-234+37671del	XP_011534113.1:n.-234+37666_-234+37671del
XR_942917.1:n.544+7219_544+7224del
XR_942918.1:n.545-6875_545-6870del
XM_011535810.2:c.-138-7849_-138-7844del	XP_011534112.1:n.-138-7849_-138-7844del
XM_017010846.1:c.-138-7849_-138-7844del	XP_016866335.1:n.-138-7849_-138-7844del
XM_024446429.1:c.-1650-7849_-1650-7844del	XP_024302197.1:n.-1650-7849_-1650-7844del
XM_024446430.1:c.-1650-7849_-1650-7844del	XP_024302198.1:n.-1650-7849_-1650-7844del
NM_001178035.2:c.-27-19562_-27-19557del	NP_001171506.1:n.-27-19562_-27-19557del