Canonical Allele Identifier: CA628019667

Gene: RNF213 RNF213-AS1

Linked Data

• dbSNP Id: rs1224629249
• gnomAD v2: 17-78346786-GAGA-G
• gnomAD v3: 17-80372986-GAGA-G
• gnomAD v4: 17-80372986-GAGA-G
• MyVariant Identifiers: chr17:g.78346787_78346789del (hg19) ; chr17:g.80372987_80372989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80372989_80372991del , CM000679.2:g.80372989_80372991del	GRCh38
NC_000017.10:g.78346789_78346791del , CM000679.1:g.78346789_78346791del	GRCh37
NC_000017.9:g.75961384_75961386del	NCBI36
NG_031980.2:g.117129_117131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.12766_12768del (RNF213) MANE Select	ENSP00000464087.1:p.Lys4256del
ENST00000411702.7:n.564_566del (RNF213)
ENST00000508628.6:c.12913_12915del (RNF213)	ENSP00000425956.2:p.Lys4305del
ENST00000558116.5:n.2095_2097del (RNF213)
ENST00000582970.5:c.12766_12768del (RNF213)	ENSP00000464087.1:p.Lys4256del
NM_001256071.2:c.12766_12768del (RNF213)	NP_001243000.2:p.Lys4256del
NR_029376.1:n.241-17701_241-17699del (RNF213-AS1)
XM_005257545.3:c.12913_12915del (RNF213)	XP_005257602.2:p.Lys4305del
XM_005257546.3:c.12913_12915del (RNF213)	XP_005257603.2:p.Lys4305del
XM_006721995.2:c.12913_12915del (RNF213)	XP_006722058.1:p.Lys4305del
XM_011525084.1:c.12913_12915del (RNF213)	XP_011523386.1:p.Lys4305del
XM_011525085.1:c.12913_12915del (RNF213)	XP_011523387.1:p.Lys4305del
XR_243676.3:n.13084_13086del (RNF213)
XM_005257545.4:c.12913_12915del (RNF213)	XP_005257602.2:p.Lys4305del
XM_005257546.4:c.12913_12915del (RNF213)	XP_005257603.2:p.Lys4305del
XM_006721995.3:c.12913_12915del (RNF213)	XP_006722058.1:p.Lys4305del
XM_011525084.2:c.12913_12915del (RNF213)	XP_011523386.1:p.Lys4305del
XM_017024905.2:c.11908_11910del (RNF213)	XP_016880394.1:p.Lys3970del
NM_001256071.3:c.12766_12768del (RNF213) MANE Select	NP_001243000.2:p.Lys4256del