Canonical Allele Identifier: CA2277946672
Gene: RNF213 HGNC NCBI
RNF213-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80373281_80373284delinsCCTT , CM000679.2:g.80373281_80373284delinsCCTT GRCh38
NC_000017.10:g.78347081_78347084delinsCCTT , CM000679.1:g.78347081_78347084delinsCCTT GRCh37
NC_000017.9:g.75961676_75961679delinsCCTT NCBI36
NG_031980.2:g.117421_117424delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000582970.6:c.12942+116_12942+119delinsCCTT (RNF213) MANE Select ENSP00000464087.1:n.12942+116_12942+119delinsCCTT
ENST00000411702.7:n.740+116_740+119delinsCCTT (RNF213)
ENST00000508628.6:c.13089+116_13089+119delinsCCTT (RNF213) ENSP00000425956.2:n.13089+116_13089+119delinsCCTT
ENST00000558116.5:n.2271+116_2271+119delinsCCTT (RNF213)
ENST00000573038.1:c.97+116_97+119delinsCCTT (RNF213)
ENST00000582970.5:c.12942+116_12942+119delinsCCTT (RNF213) ENSP00000464087.1:n.12942+116_12942+119delinsCCTT
NM_001256071.2:c.12942+116_12942+119delinsCCTT (RNF213) NP_001243000.2:n.12942+116_12942+119delinsCCTT
NR_029376.1:n.241-17996_241-17993delinsAAGG (RNF213-AS1)
XM_005257545.3:c.13089+116_13089+119delinsCCTT (RNF213) XP_005257602.2:n.13089+116_13089+119delinsCCTT
XM_005257546.3:c.13089+116_13089+119delinsCCTT (RNF213) XP_005257603.2:n.13089+116_13089+119delinsCCTT
XM_006721995.2:c.13089+116_13089+119delinsCCTT (RNF213) XP_006722058.1:n.13089+116_13089+119delinsCCTT
XM_011525084.1:c.13089+116_13089+119delinsCCTT (RNF213) XP_011523386.1:n.13089+116_13089+119delinsCCTT
XM_011525085.1:c.13089+116_13089+119delinsCCTT (RNF213) XP_011523387.1:n.13089+116_13089+119delinsCCTT
XR_243676.3:n.13260+116_13260+119delinsCCTT (RNF213)
XM_005257545.4:c.13089+116_13089+119delinsCCTT (RNF213) XP_005257602.2:n.13089+116_13089+119delinsCCTT
XM_005257546.4:c.13089+116_13089+119delinsCCTT (RNF213) XP_005257603.2:n.13089+116_13089+119delinsCCTT
XM_006721995.3:c.13089+116_13089+119delinsCCTT (RNF213) XP_006722058.1:n.13089+116_13089+119delinsCCTT
XM_011525084.2:c.13089+116_13089+119delinsCCTT (RNF213) XP_011523386.1:n.13089+116_13089+119delinsCCTT
XM_017024905.2:c.12084+116_12084+119delinsCCTT (RNF213) XP_016880394.1:n.12084+116_12084+119delinsCCTT
NM_001256071.3:c.12942+116_12942+119delinsCCTT (RNF213) MANE Select NP_001243000.2:n.12942+116_12942+119delinsCCTT