Canonical Allele Identifier: CA986749066

Gene: RNF213 RNF213-AS1

Linked Data

• dbSNP Id: rs2079350953
• gnomAD v3: 17-80368051-CAG-C
• gnomAD v4: 17-80368051-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80368052_80368053del , CM000679.2:g.80368052_80368053del	GRCh38
NC_000017.10:g.78341852_78341853del , CM000679.1:g.78341852_78341853del	GRCh37
NC_000017.9:g.75956447_75956448del	NCBI36
NG_031980.2:g.112192_112193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.12064_12065del (RNF213) MANE Select	ENSP00000464087.1:p.Arg4022GlyfsTer?
ENST00000508628.6:c.12211_12212del (RNF213)	ENSP00000425956.2:p.Arg4071GlyfsTer?
ENST00000558116.5:n.1393_1394del (RNF213)
ENST00000582970.5:c.12064_12065del (RNF213)	ENSP00000464087.1:p.Arg4022GlyfsTer?
NM_001256071.2:c.12064_12065del (RNF213)	NP_001243000.2:p.Arg4022GlyfsTer?
NR_029376.1:n.241-12765_241-12764del (RNF213-AS1)
XM_005257545.3:c.12211_12212del (RNF213)	XP_005257602.2:p.Arg4071GlyfsTer?
XM_005257546.3:c.12211_12212del (RNF213)	XP_005257603.2:p.Arg4071GlyfsTer?
XM_006721995.2:c.12211_12212del (RNF213)	XP_006722058.1:p.Arg4071GlyfsTer?
XM_011525084.1:c.12211_12212del (RNF213)	XP_011523386.1:p.Arg4071GlyfsTer?
XM_011525085.1:c.12211_12212del (RNF213)	XP_011523387.1:p.Arg4071GlyfsTer?
XM_011525086.1:c.12211_12212del (RNF213)	XP_011523388.1:p.Arg4071GlyfsTer?
XR_243676.3:n.12382_12383del (RNF213)
XM_005257545.4:c.12211_12212del (RNF213)	XP_005257602.2:p.Arg4071GlyfsTer?
XM_005257546.4:c.12211_12212del (RNF213)	XP_005257603.2:p.Arg4071GlyfsTer?
XM_006721995.3:c.12211_12212del (RNF213)	XP_006722058.1:p.Arg4071GlyfsTer?
XM_011525084.2:c.12211_12212del (RNF213)	XP_011523386.1:p.Arg4071GlyfsTer?
XM_011525086.2:c.12211_12212del (RNF213)	XP_011523388.1:p.Arg4071GlyfsTer?
XM_017024905.2:c.11206_11207del (RNF213)	XP_016880394.1:p.Arg3736GlyfsTer?
NM_001256071.3:c.12064_12065del (RNF213) MANE Select	NP_001243000.2:p.Arg4022GlyfsTer?