Canonical Allele Identifier: CA1093658758

Gene: CEP85L

Linked Data

• dbSNP Id: rs1776335678
• gnomAD v3: 6-118672402-CTA-C
• gnomAD v4: 6-118672402-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118672404_118672405del , CM000668.2:g.118672404_118672405del	GRCh38
NC_000006.11:g.118993567_118993568del , CM000668.1:g.118993567_118993568del	GRCh37
NC_000006.10:g.119100260_119100261del	NCBI36
NG_021248.1:g.42672_42673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368488.9:c.-27-19596_-27-19595del	ENSP00000357474.5:n.-27-19596_-27-19595del
ENST00000392500.7:c.-138-7883_-138-7882del	ENSP00000376288.3:n.-138-7883_-138-7882del
ENST00000434604.5:c.-27-19596_-27-19595del	ENSP00000392131.1:n.-27-19596_-27-19595del
NM_001178035.1:c.-27-19596_-27-19595del	NP_001171506.1:n.-27-19596_-27-19595del
XM_011535811.1:c.-234+37632_-234+37633del	XP_011534113.1:n.-234+37632_-234+37633del
XR_942917.1:n.544+7254_544+7255del
XR_942918.1:n.545-6840_545-6839del
XM_011535810.2:c.-138-7883_-138-7882del	XP_011534112.1:n.-138-7883_-138-7882del
XM_017010846.1:c.-138-7883_-138-7882del	XP_016866335.1:n.-138-7883_-138-7882del
XM_024446429.1:c.-1650-7883_-1650-7882del	XP_024302197.1:n.-1650-7883_-1650-7882del
XM_024446430.1:c.-1650-7883_-1650-7882del	XP_024302198.1:n.-1650-7883_-1650-7882del
NM_001178035.2:c.-27-19596_-27-19595del	NP_001171506.1:n.-27-19596_-27-19595del