Canonical Allele Identifier: CA2499218944

Gene: RNF216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5711758T>C , CM000669.2:g.5711758T>C	GRCh38
NC_000007.13:g.5751389T>C , CM000669.1:g.5751389T>C	GRCh37
NC_000007.12:g.5717915T>C	NCBI36
NG_029374.1:g.74973A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_207111.4:c.2061+3A>G MANE Select	NP_996994.1:n.2061+3A>G
ENST00000389902.8:c.2061+3A>G MANE Select	ENSP00000374552.3:n.2061+3A>G
NM_001377156.1:c.1890+3A>G	NP_001364085.1:n.1890+3A>G
NM_207111.3:c.2061+3A>G	NP_996994.1:n.2061+3A>G
NM_207116.2:c.1890+3A>G	NP_996999.1:n.1890+3A>G
NM_207116.3:c.1890+3A>G	NP_996999.1:n.1890+3A>G
ENST00000389900.8:c.*1178+3A>G	ENSP00000374550.4:n.*1178+3A>G
ENST00000389902.7:c.2061+3A>G	ENSP00000374552.3:n.2061+3A>G
ENST00000425013.6:c.1890+3A>G	ENSP00000404602.2:n.1890+3A>G
ENST00000484458.2:n.365+3A>G
XM_005249785.2:c.2061+3A>G	XP_005249842.1:n.2061+3A>G
XM_006715748.1:c.756+3A>G	XP_006715811.1:n.756+3A>G
XM_011515434.1:c.2061+3A>G	XP_011513736.1:n.2061+3A>G
XM_011515435.1:c.2061+3A>G	XP_011513737.1:n.2061+3A>G
XM_011515436.1:c.756+3A>G	XP_011513738.1:n.756+3A>G
XM_011515436.2:c.756+3A>G	XP_011513738.1:n.756+3A>G
XM_017012363.2:c.1890+3A>G	XP_016867852.1:n.1890+3A>G
XM_017012364.2:c.2061+3A>G	XP_016867853.1:n.2061+3A>G
XM_024446805.1:c.2061+3A>G	XP_024302573.1:n.2061+3A>G
XM_024446806.1:c.756+3A>G	XP_024302574.1:n.756+3A>G
XM_024446807.1:c.756+3A>G	XP_024302575.1:n.756+3A>G
XR_242090.1:n.2153+3A>G