Canonical Allele Identifier: CA2564111706

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757724_101757725insAGACGG , CM000665.2:g.101757724_101757725insAGACGG	GRCh38
NC_000003.11:g.101476568_101476569insAGACGG , CM000665.1:g.101476568_101476569insAGACGG	GRCh37
NC_000003.10:g.102959258_102959259insAGACGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*753_*754insAGACGG	ENSP00000419009.1:n.*753_*754insAGACGG
ENST00000467655.2:c.*205_*206insAGACGG	ENSP00000418547.2:n.*205_*206insAGACGG
ENST00000704365.1:c.1118_1119insAGACGG	ENSP00000515873.1:p.His373delinsGlnAspGly
ENST00000704366.1:c.1016_1017insAGACGG	ENSP00000515874.1:p.His339delinsGlnAspGly
ENST00000704367.1:c.926-87_926-86insAGACGG	ENSP00000515875.1:n.926-87_926-86insAGACGG
ENST00000704368.1:n.1611_1612insAGACGG
ENST00000704369.1:c.632_633insAGACGG	ENSP00000515876.1:p.His211delinsGlnAspGly
ENST00000704370.1:c.1112_1113insAGACGG	ENSP00000515877.1:p.His371delinsGlnAspGly
ENST00000704372.1:n.1472_1473insAGACGG
ENST00000704444.1:c.902_903insAGACGG	ENSP00000515896.1:p.His301delinsGlnAspGly
ENST00000704445.1:c.770_771insAGACGG	ENSP00000515897.1:p.His257delinsGlnAspGly
ENST00000704446.1:c.1048+528_1048+529insAGACGG	ENSP00000515898.1:n.1048+528_1048+529insAGACGG
ENST00000341893.8:c.1118_1119insAGACGG MANE Select	ENSP00000342510.3:p.His373delinsGlnAspGly
ENST00000341893.7:c.1118_1119insAGACGG	ENSP00000342510.3:p.His373delinsGlnAspGly
ENST00000467655.1:c.733_734insAGACGG	ENSP00000418547.1:n.733_734insAGACGG
ENST00000489172.5:n.1100_1101insAGACGG
ENST00000494050.5:c.1028-87_1028-86insAGACGG	ENSP00000418185.1:n.1028-87_1028-86insAGACGG
NM_001303401.1:c.1028-87_1028-86insAGACGG	NP_001290330.1:n.1028-87_1028-86insAGACGG
NM_024548.3:c.1118_1119insAGACGG	NP_078824.2:p.His373delinsGlnAspGly
XM_006713743.2:c.1016_1017insAGACGG	XP_006713806.1:p.His339delinsGlnAspGly
XM_011513125.1:c.902_903insAGACGG	XP_011511427.1:p.His301delinsGlnAspGly
XM_011513126.1:c.902_903insAGACGG	XP_011511428.1:p.His301delinsGlnAspGly
XM_011513127.1:c.770_771insAGACGG	XP_011511429.1:p.His257delinsGlnAspGly
XM_006713743.4:c.1016_1017insAGACGG	XP_006713806.1:p.His339delinsGlnAspGly
XM_017007178.2:c.926-87_926-86insAGACGG	XP_016862667.1:n.926-87_926-86insAGACGG
NM_024548.4:c.1118_1119insAGACGG MANE Select	NP_078824.2:p.His373delinsGlnAspGly
NM_001303401.2:c.1028-87_1028-86insAGACGG	NP_001290330.1:n.1028-87_1028-86insAGACGG