Canonical Allele Identifier: CA2578822605

Gene: RNF216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641196del , CM000669.2:g.5641196del	GRCh38
NC_000007.13:g.5680827del , CM000669.1:g.5680827del	GRCh37
NC_000007.12:g.5647353del	NCBI36
NG_029374.1:g.145536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2341del MANE Select	ENSP00000374552.3:p.Cys781AlafsTer?
ENST00000389900.8:c.*1458del	ENSP00000374550.4:n.*1458del
ENST00000389902.7:c.2341del	ENSP00000374552.3:p.Cys781AlafsTer?
ENST00000425013.6:c.2170del	ENSP00000404602.2:p.Cys724AlafsTer?
ENST00000469375.1:n.558del
NM_207111.3:c.2341del	NP_996994.1:p.Cys781AlafsTer?
NM_207116.2:c.2170del	NP_996999.1:p.Cys724AlafsTer?
XM_005249785.2:c.2341del	XP_005249842.1:p.Cys781AlafsTer?
XM_006715748.1:c.1036del	XP_006715811.1:p.Cys346AlafsTer?
XM_011515434.1:c.2341del	XP_011513736.1:p.Cys781AlafsTer?
XM_011515436.1:c.1036del	XP_011513738.1:p.Cys346AlafsTer?
XM_011515436.2:c.1036del	XP_011513738.1:p.Cys346AlafsTer?
XM_017012363.2:c.2170del	XP_016867852.1:p.Cys724AlafsTer?
XM_024446805.1:c.2341del	XP_024302573.1:p.Cys781AlafsTer?
XM_024446806.1:c.1036del	XP_024302574.1:p.Cys346AlafsTer?
XM_024446807.1:c.1036del	XP_024302575.1:p.Cys346AlafsTer?
NM_001377156.1:c.2170del	NP_001364085.1:p.Cys724AlafsTer?
NM_207111.4:c.2341del MANE Select	NP_996994.1:p.Cys781AlafsTer?
NM_207116.3:c.2170del	NP_996999.1:p.Cys724AlafsTer?