Canonical Allele Identifier: CA1685037973

Gene: RNF216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641261G= , CM000669.2:g.5641261G=	GRCh38
NC_000007.13:g.5680892G= , CM000669.1:g.5680892G=	GRCh37
NC_000007.12:g.5647418G=	NCBI36
NG_029374.1:g.145470C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2275C= MANE Select	ENSP00000374552.3:p.Leu759=
ENST00000389900.8:c.*1392C=	ENSP00000374550.4:n.*1392C=
ENST00000389902.7:c.2275C=	ENSP00000374552.3:p.Leu759=
ENST00000425013.6:c.2104C=	ENSP00000404602.2:p.Leu702=
ENST00000469375.1:n.492C=
NM_207111.3:c.2275C=	NP_996994.1:p.Leu759=
NM_207116.2:c.2104C=	NP_996999.1:p.Leu702=
XM_005249785.2:c.2275C=	XP_005249842.1:p.Leu759=
XM_006715748.1:c.970C=	XP_006715811.1:p.Leu324=
XM_011515434.1:c.2275C=	XP_011513736.1:p.Leu759=
XM_011515436.1:c.970C=	XP_011513738.1:p.Leu324=
XM_011515436.2:c.970C=	XP_011513738.1:p.Leu324=
XM_017012363.2:c.2104C=	XP_016867852.1:p.Leu702=
XM_024446805.1:c.2275C=	XP_024302573.1:p.Leu759=
XM_024446806.1:c.970C=	XP_024302574.1:p.Leu324=
XM_024446807.1:c.970C=	XP_024302575.1:p.Leu324=
NM_001377156.1:c.2104C=	NP_001364085.1:p.Leu702=
NM_207111.4:c.2275C= MANE Select	NP_996994.1:p.Leu759=
NM_207116.3:c.2104C=	NP_996999.1:p.Leu702=