Canonical Allele Identifier: CA2640335899
Gene: RNF213 HGNC NCBI
RNF213-AS1 HGNC NCBI

Linked Data

gnomAD v4: 17-80373215-TACACCCCAAACCCACACACCCCCCTACCCTCACACCCTACCCCCCCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80373224_80373270del , CM000679.2:g.80373224_80373270del GRCh38
NC_000017.10:g.78347024_78347070del , CM000679.1:g.78347024_78347070del GRCh37
NC_000017.9:g.75961619_75961665del NCBI36
NG_031980.2:g.117364_117410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000582970.6:c.12942+59_12942+105del (RNF213) MANE Select ENSP00000464087.1:n.12942+59_12942+105del
ENST00000411702.7:n.740+59_740+105del (RNF213)
ENST00000508628.6:c.13089+59_13089+105del (RNF213) ENSP00000425956.2:n.13089+59_13089+105del
ENST00000558116.5:n.2271+59_2271+105del (RNF213)
ENST00000573038.1:c.97+59_97+105del (RNF213)
ENST00000582970.5:c.12942+59_12942+105del (RNF213) ENSP00000464087.1:n.12942+59_12942+105del
NM_001256071.2:c.12942+59_12942+105del (RNF213) NP_001243000.2:n.12942+59_12942+105del
NR_029376.1:n.241-17974_241-17928del (RNF213-AS1)
XM_005257545.3:c.13089+59_13089+105del (RNF213) XP_005257602.2:n.13089+59_13089+105del
XM_005257546.3:c.13089+59_13089+105del (RNF213) XP_005257603.2:n.13089+59_13089+105del
XM_006721995.2:c.13089+59_13089+105del (RNF213) XP_006722058.1:n.13089+59_13089+105del
XM_011525084.1:c.13089+59_13089+105del (RNF213) XP_011523386.1:n.13089+59_13089+105del
XM_011525085.1:c.13089+59_13089+105del (RNF213) XP_011523387.1:n.13089+59_13089+105del
XR_243676.3:n.13260+59_13260+105del (RNF213)
XM_005257545.4:c.13089+59_13089+105del (RNF213) XP_005257602.2:n.13089+59_13089+105del
XM_005257546.4:c.13089+59_13089+105del (RNF213) XP_005257603.2:n.13089+59_13089+105del
XM_006721995.3:c.13089+59_13089+105del (RNF213) XP_006722058.1:n.13089+59_13089+105del
XM_011525084.2:c.13089+59_13089+105del (RNF213) XP_011523386.1:n.13089+59_13089+105del
XM_017024905.2:c.12084+59_12084+105del (RNF213) XP_016880394.1:n.12084+59_12084+105del
NM_001256071.3:c.12942+59_12942+105del (RNF213) MANE Select NP_001243000.2:n.12942+59_12942+105del
Search 100 bp 5'
Search 100 bp 3'