Canonical Allele Identifier: CA2580083500
Community Standard Title: NC_000011.10:g.117380601_117380615del
Gene: CEP164 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117380601_117380615del , CM000673.2:g.117380601_117380615del GRCh38
NC_000011.9:g.117251317_117251331del , CM000673.1:g.117251317_117251331del GRCh37
NC_000011.8:g.116756527_116756541del NCBI36
NG_033032.1:g.63824_63838del

Transcript Alleles

HGVS Amino-acid Change
NM_001271933.1:c.1318-13_1319del
NM_001271933.2:c.1318-13_1319del
NM_014956.4:c.1318-13_1319del
NM_014956.5:c.1318-13_1319del
ENST00000278935.7:c.1318-13_1319del
ENST00000278935.8:c.1318-13_1319del
ENST00000533675.5:n.1564-13_1565del
ENST00000533706.5:n.642-13_643del
XM_005271453.1:c.3004-13_3005del
XM_005271456.1:c.1318-13_1319del
XM_005271457.1:c.1318-13_1319del
XM_006718788.1:c.3004-13_3005del
XM_006718794.1:c.1240-13_1241del
XM_011542670.1:c.3004-13_3005del
XM_011542671.1:c.3004-13_3005del
XM_011542672.1:c.3004-13_3005del
XM_011542673.1:c.3004-13_3005del
XM_011542674.1:c.3004-13_3005del
XM_011542675.1:c.3004-13_3005del
XM_011542676.1:c.2926-13_2927del
XM_011542677.1:c.2866-13_2867del
XM_011542678.1:c.2866-13_2867del
XM_011542679.1:c.3004-13_3005del
XM_011542680.1:c.2758-13_2759del
XM_011542681.1:c.3004-13_3005del
XM_011542682.1:c.1318-13_1319del
XM_011542683.1:c.1318-13_1319del
XM_011542685.1:c.1240-13_1241del
XM_011542686.1:c.1240-13_1241del
XM_011542687.1:c.1180-13_1181del
XM_011542688.1:c.979-13_980del
XM_017017364.1:c.3004-13_3005del
XM_017017365.1:c.3004-13_3005del
XM_017017366.1:c.3004-13_3005del
XM_017017367.1:c.3004-13_3005del
XM_017017368.1:c.3004-13_3005del
XM_017017369.1:c.3004-13_3005del
XM_017017370.1:c.3004-13_3005del
XM_017017371.1:c.2926-13_2927del
XM_017017372.1:c.2926-13_2927del
XM_017017373.2:c.2866-13_2867del
XM_017017374.1:c.2866-13_2867del
XM_017017375.2:c.2866-13_2867del
XM_017017376.1:c.3004-13_3005del
XM_017017377.2:c.2758-13_2759del
XM_017017378.1:c.3004-13_3005del
XM_017017379.1:c.1318-13_1319del
XM_017017380.1:c.1318-13_1319del
XM_017017381.1:c.1240-13_1241del
XM_017017382.1:c.1240-13_1241del
XM_017017383.1:c.1180-13_1181del
XM_017017384.1:c.1180-13_1181del
XM_017017385.1:c.979-13_980del
XM_017017386.1:c.1102-13_1103del
XR_001747793.1:n.3422-13_3423del
XR_001747794.1:n.3422-13_3423del
XR_002957132.1:n.3422-13_3423del
XR_002957133.1:n.3422-13_3423del
XR_428971.2:n.3422-13_3423del
XR_428971.3:n.3422-13_3423del
XR_947808.1:n.3422-13_3423del
XR_947809.1:n.3422-13_3423del
XR_947810.1:n.3422-13_3423del
XR_947811.1:n.3422-13_3423del