Canonical Allele Identifier: CA2774263707

Gene: RNF216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641376_5641377insATAGAGGTACGGTACTTGATGTCGTCTTTTTCAGCCAGCTCTTCACAGGTGAGGCCATTATGTTCTTTCCAGAGTCC , CM000669.2:g.5641376_5641377insATAGAGGTACGGTACTTGATGTCGTCTTTTTCAGCCAGCTCTTCACAGGTGAGGCCATTATGTTCTTTCCAGAGTCC	GRCh38
NC_000007.13:g.5681007_5681008insATAGAGGTACGGTACTTGATGTCGTCTTTTTCAGCCAGCTCTTCACAGGTGAGGCCATTATGTTCTTTCCAGAGTCC , CM000669.1:g.5681007_5681008insATAGAGGTACGGTACTTGATGTCGTCTTTTTCAGCCAGCTCTTCACAGGTGAGGCCATTATGTTCTTTCCAGAGTCC	GRCh37
NC_000007.12:g.5647533_5647534insATAGAGGTACGGTACTTGATGTCGTCTTTTTCAGCCAGCTCTTCACAGGTGAGGCCATTATGTTCTTTCCAGAGTCC	NCBI36
NG_029374.1:g.145354_145355insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT MANE Select	ENSP00000374552.3:n.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTC...
ENST00000389900.8:c.*1277-1_*1277insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	ENSP00000374550.4:n.*1277-1_*1277insGGACTCTGGAAAGAACATAATGGCC...
ENST00000389902.7:c.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	ENSP00000374552.3:n.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTC...
ENST00000425013.6:c.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	ENSP00000404602.2:n.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTC...
ENST00000469375.1:n.377-1_377insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT
ENST00000484458.2:n.464-1_464insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT
NM_207111.3:c.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	NP_996994.1:n.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGT...
NM_207116.2:c.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	NP_996999.1:n.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACCTGT...
XM_005249785.2:c.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	XP_005249842.1:n.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACC...
XM_006715748.1:c.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	XP_006715811.1:n.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTG...
XM_011515434.1:c.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	XP_011513736.1:n.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACC...
XM_011515436.1:c.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	XP_011513738.1:n.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTG...
XM_011515436.2:c.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	XP_011513738.1:n.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTG...
XM_017012363.2:c.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	XP_016867852.1:n.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACC...
XM_024446805.1:c.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	XP_024302573.1:n.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACC...
XM_024446806.1:c.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	XP_024302574.1:n.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTG...
XM_024446807.1:c.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	XP_024302575.1:n.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTG...
NM_001377156.1:c.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	NP_001364085.1:n.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACC...
NM_207111.4:c.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT MANE Select	NP_996994.1:n.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGT...
NM_207116.3:c.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT	NP_996999.1:n.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACCTGT...