Canonical Allele Identifier: CA2640335900

Gene: RNF213 RNF213-AS1

Linked Data

• gnomAD v4: 17-80373216-ACACCCCAAACCCACACACCCCCCTACCCTCACACCCTACCCCCCCCACACCCCACCCCCTCACACCTTCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80373221_80373291del , CM000679.2:g.80373221_80373291del	GRCh38
NC_000017.10:g.78347021_78347091del , CM000679.1:g.78347021_78347091del	GRCh37
NC_000017.9:g.75961616_75961686del	NCBI36
NG_031980.2:g.117361_117431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.12942+56_12942+126del (RNF213) MANE Select	ENSP00000464087.1:n.12942+56_12942+126del
ENST00000411702.7:n.740+56_740+126del (RNF213)
ENST00000508628.6:c.13089+56_13089+126del (RNF213)	ENSP00000425956.2:n.13089+56_13089+126del
ENST00000558116.5:n.2271+56_2271+126del (RNF213)
ENST00000573038.1:c.97+56_97+126del (RNF213)
ENST00000582970.5:c.12942+56_12942+126del (RNF213)	ENSP00000464087.1:n.12942+56_12942+126del
NM_001256071.2:c.12942+56_12942+126del (RNF213)	NP_001243000.2:n.12942+56_12942+126del
NR_029376.1:n.241-17999_241-17929del (RNF213-AS1)
XM_005257545.3:c.13089+56_13089+126del (RNF213)	XP_005257602.2:n.13089+56_13089+126del
XM_005257546.3:c.13089+56_13089+126del (RNF213)	XP_005257603.2:n.13089+56_13089+126del
XM_006721995.2:c.13089+56_13089+126del (RNF213)	XP_006722058.1:n.13089+56_13089+126del
XM_011525084.1:c.13089+56_13089+126del (RNF213)	XP_011523386.1:n.13089+56_13089+126del
XM_011525085.1:c.13089+56_13089+126del (RNF213)	XP_011523387.1:n.13089+56_13089+126del
XR_243676.3:n.13260+56_13260+126del (RNF213)
XM_005257545.4:c.13089+56_13089+126del (RNF213)	XP_005257602.2:n.13089+56_13089+126del
XM_005257546.4:c.13089+56_13089+126del (RNF213)	XP_005257603.2:n.13089+56_13089+126del
XM_006721995.3:c.13089+56_13089+126del (RNF213)	XP_006722058.1:n.13089+56_13089+126del
XM_011525084.2:c.13089+56_13089+126del (RNF213)	XP_011523386.1:n.13089+56_13089+126del
XM_017024905.2:c.12084+56_12084+126del (RNF213)	XP_016880394.1:n.12084+56_12084+126del
NM_001256071.3:c.12942+56_12942+126del (RNF213) MANE Select	NP_001243000.2:n.12942+56_12942+126del