Canonical Allele Identifier: CA6294399
Gene: CEP164 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117351942del , CM000673.2:g.117351942del GRCh38
NC_000011.9:g.117222658del , CM000673.1:g.117222658del GRCh37
NC_000011.8:g.116727868del NCBI36
NG_033032.1:g.35165del

Transcript Alleles

HGVS Amino-acid Change
ENST00000278935.8:c.347del MANE Select ENSP00000278935.3:p.Lys116ArgfsTer22
ENST00000639320.1:c.153del
ENST00000278935.7:c.347del ENSP00000278935.3:p.Lys116ArgfsTer22
ENST00000525416.5:c.209del ENSP00000435759.1:p.Lys70ArgfsTer22
ENST00000525734.5:c.347del
ENST00000527609.5:c.347del ENSP00000436351.2:p.Lys116ArgfsTer?
ENST00000533153.5:c.209del ENSP00000436034.1:p.Lys70ArgfsTer22
ENST00000533570.1:c.347del ENSP00000431302.1:p.Lys116ArgfsTer?
NM_001271933.1:c.347del NP_001258862.1:p.Lys116ArgfsTer22
NM_014956.4:c.347del NP_055771.4:p.Lys116ArgfsTer22
XM_005271453.1:c.347del XP_005271510.1:p.Lys116ArgfsTer?
XM_005271456.1:c.347del XP_005271513.1:p.Lys116ArgfsTer22
XM_005271457.1:c.347del XP_005271514.1:p.Lys116ArgfsTer22
XM_006718788.1:c.347del XP_006718851.1:p.Lys116ArgfsTer?
XM_006718794.1:c.347del XP_006718857.1:p.Lys116ArgfsTer22
XM_011542670.1:c.347del XP_011540972.1:p.Lys116ArgfsTer?
XM_011542671.1:c.347del XP_011540973.1:p.Lys116ArgfsTer?
XM_011542672.1:c.347del XP_011540974.1:p.Lys116ArgfsTer?
XM_011542673.1:c.347del XP_011540975.1:p.Lys116ArgfsTer?
XM_011542674.1:c.347del XP_011540976.1:p.Lys116ArgfsTer?
XM_011542675.1:c.347del XP_011540977.1:p.Lys116ArgfsTer?
XM_011542676.1:c.347del XP_011540978.1:p.Lys116ArgfsTer?
XM_011542677.1:c.209del XP_011540979.1:p.Lys70ArgfsTer?
XM_011542678.1:c.209del XP_011540980.1:p.Lys70ArgfsTer?
XM_011542679.1:c.347del XP_011540981.1:p.Lys116ArgfsTer?
XM_011542680.1:c.101del XP_011540982.1:p.Lys34ArgfsTer?
XM_011542681.1:c.347del XP_011540983.1:p.Lys116ArgfsTer?
XM_011542682.1:c.347del XP_011540984.1:p.Lys116ArgfsTer22
XM_011542683.1:c.347del XP_011540985.1:p.Lys116ArgfsTer22
XM_011542685.1:c.347del XP_011540987.1:p.Lys116ArgfsTer22
XM_011542686.1:c.347del XP_011540988.1:p.Lys116ArgfsTer22
XM_011542687.1:c.209del XP_011540989.1:p.Lys70ArgfsTer22
XM_011542688.1:c.-122del XP_011540990.1:n.-122del
XM_011542689.1:c.347del XP_011540991.1:p.Lys116ArgfsTer?
XM_011542690.1:c.347del XP_011540992.1:p.Lys116ArgfsTer?
XR_428971.2:n.765del
XR_947808.1:n.765del
XR_947809.1:n.765del
XR_947810.1:n.765del
XR_947811.1:n.765del
XM_017017364.1:c.347del XP_016872853.1:p.Lys116ArgfsTer?
XM_017017365.1:c.347del XP_016872854.1:p.Lys116ArgfsTer?
XM_017017366.1:c.347del XP_016872855.1:p.Lys116ArgfsTer?
XM_017017367.1:c.347del XP_016872856.1:p.Lys116ArgfsTer?
XM_017017368.1:c.347del XP_016872857.1:p.Lys116ArgfsTer?
XM_017017369.1:c.347del XP_016872858.1:p.Lys116ArgfsTer?
XM_017017370.1:c.347del XP_016872859.1:p.Lys116ArgfsTer?
XM_017017371.1:c.347del XP_016872860.1:p.Lys116ArgfsTer?
XM_017017372.1:c.347del XP_016872861.1:p.Lys116ArgfsTer?
XM_017017373.2:c.209del XP_016872862.1:p.Lys70ArgfsTer?
XM_017017374.1:c.209del XP_016872863.1:p.Lys70ArgfsTer?
XM_017017375.2:c.209del XP_016872864.1:p.Lys70ArgfsTer?
XM_017017376.1:c.347del XP_016872865.1:p.Lys116ArgfsTer?
XM_017017377.2:c.101del XP_016872866.1:p.Lys34ArgfsTer?
XM_017017378.1:c.347del XP_016872867.1:p.Lys116ArgfsTer?
XM_017017379.1:c.347del XP_016872868.1:p.Lys116ArgfsTer22
XM_017017380.1:c.347del XP_016872869.1:p.Lys116ArgfsTer22
XM_017017381.1:c.347del XP_016872870.1:p.Lys116ArgfsTer22
XM_017017382.1:c.347del XP_016872871.1:p.Lys116ArgfsTer22
XM_017017383.1:c.209del XP_016872872.1:p.Lys70ArgfsTer22
XM_017017384.1:c.209del XP_016872873.1:p.Lys70ArgfsTer22
XM_017017385.1:c.-122del XP_016872874.1:n.-122del
XM_017017386.1:c.209del XP_016872875.1:p.Lys70ArgfsTer22
XR_001747793.1:n.765del
XR_001747794.1:n.765del
XR_002957132.1:n.765del
XR_002957133.1:n.765del
XR_428971.3:n.765del
NM_014956.5:c.347del MANE Select NP_055771.4:p.Lys116ArgfsTer22
NM_001271933.2:c.347del NP_001258862.1:p.Lys116ArgfsTer22
Search 100 bp 5'
Search 100 bp 3'