Canonical Allele Identifier: CA891862853

Gene: CEP164

Linked Data

• ClinVar Variation Id: 591346
• ClinVar RCV Id: RCV000722524 ; RCV003647802
• dbSNP Id: rs1565455033
• gnomAD v4: 11-117351942-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117351942_117351943insT , CM000673.2:g.117351942_117351943insT	GRCh38
NC_000011.9:g.117222658_117222659insT , CM000673.1:g.117222658_117222659insT	GRCh37
NC_000011.8:g.116727868_116727869insT	NCBI36
NG_033032.1:g.35165_35166insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278935.8:c.347_348insT MANE Select	ENSP00000278935.3:p.Lys116AsnfsTer?
ENST00000639320.1:c.153_154insT
ENST00000278935.7:c.347_348insT	ENSP00000278935.3:p.Lys116AsnfsTer?
ENST00000525416.5:c.209_210insT	ENSP00000435759.1:p.Lys70AsnfsTer?
ENST00000527609.5:c.347_348insT	ENSP00000436351.2:p.Lys116AsnfsTer?
ENST00000533153.5:c.209_210insT	ENSP00000436034.1:p.Lys70AsnfsTer?
ENST00000533570.1:c.347_348insT	ENSP00000431302.1:p.Lys116AsnfsTer?
NM_001271933.1:c.347_348insT	NP_001258862.1:p.Lys116AsnfsTer?
NM_014956.4:c.347_348insT	NP_055771.4:p.Lys116AsnfsTer?
XM_005271453.1:c.347_348insT	XP_005271510.1:p.Lys116AsnfsTer21
XM_005271456.1:c.347_348insT	XP_005271513.1:p.Lys116AsnfsTer?
XM_005271457.1:c.347_348insT	XP_005271514.1:p.Lys116AsnfsTer?
XM_006718788.1:c.347_348insT	XP_006718851.1:p.Lys116AsnfsTer21
XM_006718794.1:c.347_348insT	XP_006718857.1:p.Lys116AsnfsTer?
XM_011542670.1:c.347_348insT	XP_011540972.1:p.Lys116AsnfsTer21
XM_011542671.1:c.347_348insT	XP_011540973.1:p.Lys116AsnfsTer21
XM_011542672.1:c.347_348insT	XP_011540974.1:p.Lys116AsnfsTer21
XM_011542673.1:c.347_348insT	XP_011540975.1:p.Lys116AsnfsTer21
XM_011542674.1:c.347_348insT	XP_011540976.1:p.Lys116AsnfsTer21
XM_011542675.1:c.347_348insT	XP_011540977.1:p.Lys116AsnfsTer21
XM_011542676.1:c.347_348insT	XP_011540978.1:p.Lys116AsnfsTer21
XM_011542677.1:c.209_210insT	XP_011540979.1:p.Lys70AsnfsTer21
XM_011542678.1:c.209_210insT	XP_011540980.1:p.Lys70AsnfsTer21
XM_011542679.1:c.347_348insT	XP_011540981.1:p.Lys116AsnfsTer21
XM_011542680.1:c.101_102insT	XP_011540982.1:p.Lys34AsnfsTer21
XM_011542681.1:c.347_348insT	XP_011540983.1:p.Lys116AsnfsTer21
XM_011542682.1:c.347_348insT	XP_011540984.1:p.Lys116AsnfsTer?
XM_011542683.1:c.347_348insT	XP_011540985.1:p.Lys116AsnfsTer?
XM_011542685.1:c.347_348insT	XP_011540987.1:p.Lys116AsnfsTer?
XM_011542686.1:c.347_348insT	XP_011540988.1:p.Lys116AsnfsTer?
XM_011542687.1:c.209_210insT	XP_011540989.1:p.Lys70AsnfsTer?
XM_011542688.1:c.-122_-121insT	XP_011540990.1:n.-122_-121insT
XM_011542689.1:c.347_348insT	XP_011540991.1:p.Lys116AsnfsTer21
XM_011542690.1:c.347_348insT	XP_011540992.1:p.Lys116AsnfsTer21
XR_428971.2:n.765_766insT
XR_947808.1:n.765_766insT
XR_947809.1:n.765_766insT
XR_947810.1:n.765_766insT
XR_947811.1:n.765_766insT
XM_017017364.1:c.347_348insT	XP_016872853.1:p.Lys116AsnfsTer21
XM_017017365.1:c.347_348insT	XP_016872854.1:p.Lys116AsnfsTer21
XM_017017366.1:c.347_348insT	XP_016872855.1:p.Lys116AsnfsTer21
XM_017017367.1:c.347_348insT	XP_016872856.1:p.Lys116AsnfsTer21
XM_017017368.1:c.347_348insT	XP_016872857.1:p.Lys116AsnfsTer21
XM_017017369.1:c.347_348insT	XP_016872858.1:p.Lys116AsnfsTer21
XM_017017370.1:c.347_348insT	XP_016872859.1:p.Lys116AsnfsTer21
XM_017017371.1:c.347_348insT	XP_016872860.1:p.Lys116AsnfsTer21
XM_017017372.1:c.347_348insT	XP_016872861.1:p.Lys116AsnfsTer21
XM_017017373.2:c.209_210insT	XP_016872862.1:p.Lys70AsnfsTer21
XM_017017374.1:c.209_210insT	XP_016872863.1:p.Lys70AsnfsTer21
XM_017017375.2:c.209_210insT	XP_016872864.1:p.Lys70AsnfsTer21
XM_017017376.1:c.347_348insT	XP_016872865.1:p.Lys116AsnfsTer21
XM_017017377.2:c.101_102insT	XP_016872866.1:p.Lys34AsnfsTer21
XM_017017378.1:c.347_348insT	XP_016872867.1:p.Lys116AsnfsTer21
XM_017017379.1:c.347_348insT	XP_016872868.1:p.Lys116AsnfsTer?
XM_017017380.1:c.347_348insT	XP_016872869.1:p.Lys116AsnfsTer?
XM_017017381.1:c.347_348insT	XP_016872870.1:p.Lys116AsnfsTer?
XM_017017382.1:c.347_348insT	XP_016872871.1:p.Lys116AsnfsTer?
XM_017017383.1:c.209_210insT	XP_016872872.1:p.Lys70AsnfsTer?
XM_017017384.1:c.209_210insT	XP_016872873.1:p.Lys70AsnfsTer?
XM_017017385.1:c.-122_-121insT	XP_016872874.1:n.-122_-121insT
XM_017017386.1:c.209_210insT	XP_016872875.1:p.Lys70AsnfsTer?
XR_001747793.1:n.765_766insT
XR_001747794.1:n.765_766insT
XR_002957132.1:n.765_766insT
XR_002957133.1:n.765_766insT
XR_428971.3:n.765_766insT
NM_014956.5:c.347_348insT MANE Select	NP_055771.4:p.Lys116AsnfsTer?
NM_001271933.2:c.347_348insT	NP_001258862.1:p.Lys116AsnfsTer?