Canonical Allele Identifier: CA2277946670
Gene: RNF213 HGNC NCBI
RNF213-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80373279_80373284delinsCACCTT , CM000679.2:g.80373279_80373284delinsCACCTT GRCh38
NC_000017.10:g.78347079_78347084delinsCACCTT , CM000679.1:g.78347079_78347084delinsCACCTT GRCh37
NC_000017.9:g.75961674_75961679delinsCACCTT NCBI36
NG_031980.2:g.117419_117424delinsCACCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000582970.6:c.12942+114_12942+119delinsCACCTT (RNF213) MANE Select ENSP00000464087.1:n.12942+114_12942+119delinsCACCTT
ENST00000411702.7:n.740+114_740+119delinsCACCTT (RNF213)
ENST00000508628.6:c.13089+114_13089+119delinsCACCTT (RNF213) ENSP00000425956.2:n.13089+114_13089+119delinsCACCTT
ENST00000558116.5:n.2271+114_2271+119delinsCACCTT (RNF213)
ENST00000573038.1:c.97+114_97+119delinsCACCTT (RNF213)
ENST00000582970.5:c.12942+114_12942+119delinsCACCTT (RNF213) ENSP00000464087.1:n.12942+114_12942+119delinsCACCTT
NM_001256071.2:c.12942+114_12942+119delinsCACCTT (RNF213) NP_001243000.2:n.12942+114_12942+119delinsCACCTT
NR_029376.1:n.241-17996_241-17991delinsAAGGTG (RNF213-AS1)
XM_005257545.3:c.13089+114_13089+119delinsCACCTT (RNF213) XP_005257602.2:n.13089+114_13089+119delinsCACCTT
XM_005257546.3:c.13089+114_13089+119delinsCACCTT (RNF213) XP_005257603.2:n.13089+114_13089+119delinsCACCTT
XM_006721995.2:c.13089+114_13089+119delinsCACCTT (RNF213) XP_006722058.1:n.13089+114_13089+119delinsCACCTT
XM_011525084.1:c.13089+114_13089+119delinsCACCTT (RNF213) XP_011523386.1:n.13089+114_13089+119delinsCACCTT
XM_011525085.1:c.13089+114_13089+119delinsCACCTT (RNF213) XP_011523387.1:n.13089+114_13089+119delinsCACCTT
XR_243676.3:n.13260+114_13260+119delinsCACCTT (RNF213)
XM_005257545.4:c.13089+114_13089+119delinsCACCTT (RNF213) XP_005257602.2:n.13089+114_13089+119delinsCACCTT
XM_005257546.4:c.13089+114_13089+119delinsCACCTT (RNF213) XP_005257603.2:n.13089+114_13089+119delinsCACCTT
XM_006721995.3:c.13089+114_13089+119delinsCACCTT (RNF213) XP_006722058.1:n.13089+114_13089+119delinsCACCTT
XM_011525084.2:c.13089+114_13089+119delinsCACCTT (RNF213) XP_011523386.1:n.13089+114_13089+119delinsCACCTT
XM_017024905.2:c.12084+114_12084+119delinsCACCTT (RNF213) XP_016880394.1:n.12084+114_12084+119delinsCACCTT
NM_001256071.3:c.12942+114_12942+119delinsCACCTT (RNF213) MANE Select NP_001243000.2:n.12942+114_12942+119delinsCACCTT