Canonical Allele Identifier: CA2277943756

Gene: RNF213 RNF213-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80368051_80368053delinsCAG , CM000679.2:g.80368051_80368053delinsCAG	GRCh38
NC_000017.10:g.78341851_78341853delinsCAG , CM000679.1:g.78341851_78341853delinsCAG	GRCh37
NC_000017.9:g.75956446_75956448delinsCAG	NCBI36
NG_031980.2:g.112191_112193delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.12063_12065delinsCAG (RNF213) MANE Select	ENSP00000464087.1:p.Leu4021=
ENST00000508628.6:c.12210_12212delinsCAG (RNF213)	ENSP00000425956.2:p.Leu4070=
ENST00000558116.5:n.1392_1394delinsCAG (RNF213)
ENST00000582970.5:c.12063_12065delinsCAG (RNF213)	ENSP00000464087.1:p.Leu4021=
NM_001256071.2:c.12063_12065delinsCAG (RNF213)	NP_001243000.2:p.Leu4021=
NR_029376.1:n.241-12765_241-12763delinsCTG (RNF213-AS1)
XM_005257545.3:c.12210_12212delinsCAG (RNF213)	XP_005257602.2:p.Leu4070=
XM_005257546.3:c.12210_12212delinsCAG (RNF213)	XP_005257603.2:p.Leu4070=
XM_006721995.2:c.12210_12212delinsCAG (RNF213)	XP_006722058.1:p.Leu4070=
XM_011525084.1:c.12210_12212delinsCAG (RNF213)	XP_011523386.1:p.Leu4070=
XM_011525085.1:c.12210_12212delinsCAG (RNF213)	XP_011523387.1:p.Leu4070=
XM_011525086.1:c.12210_12212delinsCAG (RNF213)	XP_011523388.1:p.Leu4070=
XR_243676.3:n.12381_12383delinsCAG (RNF213)
XM_005257545.4:c.12210_12212delinsCAG (RNF213)	XP_005257602.2:p.Leu4070=
XM_005257546.4:c.12210_12212delinsCAG (RNF213)	XP_005257603.2:p.Leu4070=
XM_006721995.3:c.12210_12212delinsCAG (RNF213)	XP_006722058.1:p.Leu4070=
XM_011525084.2:c.12210_12212delinsCAG (RNF213)	XP_011523386.1:p.Leu4070=
XM_011525086.2:c.12210_12212delinsCAG (RNF213)	XP_011523388.1:p.Leu4070=
XM_017024905.2:c.11205_11207delinsCAG (RNF213)	XP_016880394.1:p.Leu3735=
NM_001256071.3:c.12063_12065delinsCAG (RNF213) MANE Select	NP_001243000.2:p.Leu4021=