Canonical Allele Identifier: CA2640336048

Gene: RNF213 RNF213-AS1

Linked Data

• gnomAD v4: 17-80373282-C-CCAGGGATGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80373282_80373283insCAGGGATGG , CM000679.2:g.80373282_80373283insCAGGGATGG	GRCh38
NC_000017.10:g.78347082_78347083insCAGGGATGG , CM000679.1:g.78347082_78347083insCAGGGATGG	GRCh37
NC_000017.9:g.75961677_75961678insCAGGGATGG	NCBI36
NG_031980.2:g.117422_117423insCAGGGATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.12942+117_12942+118insCAGGGATGG (RNF213) MANE Select	ENSP00000464087.1:n.12942+117_12942+118insCAGGGATGG
ENST00000411702.7:n.740+117_740+118insCAGGGATGG (RNF213)
ENST00000508628.6:c.13089+117_13089+118insCAGGGATGG (RNF213)	ENSP00000425956.2:n.13089+117_13089+118insCAGGGATGG
ENST00000558116.5:n.2271+117_2271+118insCAGGGATGG (RNF213)
ENST00000573038.1:c.97+117_97+118insCAGGGATGG (RNF213)
ENST00000582970.5:c.12942+117_12942+118insCAGGGATGG (RNF213)	ENSP00000464087.1:n.12942+117_12942+118insCAGGGATGG
NM_001256071.2:c.12942+117_12942+118insCAGGGATGG (RNF213)	NP_001243000.2:n.12942+117_12942+118insCAGGGATGG
NR_029376.1:n.241-17995_241-17994insCCATCCCTG (RNF213-AS1)
XM_005257545.3:c.13089+117_13089+118insCAGGGATGG (RNF213)	XP_005257602.2:n.13089+117_13089+118insCAGGGATGG
XM_005257546.3:c.13089+117_13089+118insCAGGGATGG (RNF213)	XP_005257603.2:n.13089+117_13089+118insCAGGGATGG
XM_006721995.2:c.13089+117_13089+118insCAGGGATGG (RNF213)	XP_006722058.1:n.13089+117_13089+118insCAGGGATGG
XM_011525084.1:c.13089+117_13089+118insCAGGGATGG (RNF213)	XP_011523386.1:n.13089+117_13089+118insCAGGGATGG
XM_011525085.1:c.13089+117_13089+118insCAGGGATGG (RNF213)	XP_011523387.1:n.13089+117_13089+118insCAGGGATGG
XR_243676.3:n.13260+117_13260+118insCAGGGATGG (RNF213)
XM_005257545.4:c.13089+117_13089+118insCAGGGATGG (RNF213)	XP_005257602.2:n.13089+117_13089+118insCAGGGATGG
XM_005257546.4:c.13089+117_13089+118insCAGGGATGG (RNF213)	XP_005257603.2:n.13089+117_13089+118insCAGGGATGG
XM_006721995.3:c.13089+117_13089+118insCAGGGATGG (RNF213)	XP_006722058.1:n.13089+117_13089+118insCAGGGATGG
XM_011525084.2:c.13089+117_13089+118insCAGGGATGG (RNF213)	XP_011523386.1:n.13089+117_13089+118insCAGGGATGG
XM_017024905.2:c.12084+117_12084+118insCAGGGATGG (RNF213)	XP_016880394.1:n.12084+117_12084+118insCAGGGATGG
NM_001256071.3:c.12942+117_12942+118insCAGGGATGG (RNF213) MANE Select	NP_001243000.2:n.12942+117_12942+118insCAGGGATGG