Canonical Allele Identifier: CA1339183964

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576582_240576597delinsGAGCCGGACCTGTCTC , CM000664.2:g.240576582_240576597delinsGAGCCGGACCTGTCTC	GRCh38
NC_000002.11:g.241515999_241516014delinsGAGCCGGACCTGTCTC , CM000664.1:g.241515999_241516014delinsGAGCCGGACCTGTCTC	GRCh37
NC_000002.10:g.241164672_241164687delinsGAGCCGGACCTGTCTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1558_1573delinsGAGCCGGACCTGTCTC MANE Select	ENSP00000270357.4:p.Glu520=
ENST00000270357.8:c.865_880delinsGAGCCGGACCTGTCTC	ENSP00000270357.3:p.Glu289=
ENST00000437406.1:c.124_139delinsGAGCCGGACCTGTCTC	ENSP00000403319.1:p.Glu42=
ENST00000451363.5:c.199_214delinsGAGCCGGACCTGTCTC	ENSP00000414661.1:p.Glu67=
ENST00000464550.5:n.394_409delinsGAGCCGGACCTGTCTC
ENST00000471657.1:n.361_376delinsGAGCCGGACCTGTCTC
ENST00000481757.5:n.2492_2507delinsGAGCCGGACCTGTCTC
ENST00000486058.5:n.1671_1686delinsGAGCCGGACCTGTCTC
ENST00000493398.5:n.704_719delinsGAGCCGGACCTGTCTC
NM_018226.4:c.1558_1573delinsGAGCCGGACCTGTCTC	NP_060696.4:p.Glu520=
XM_005247036.3:c.1525_1540delinsGAGCCGGACCTGTCTC	XP_005247093.1:p.Glu509=
NM_018226.5:c.1558_1573delinsGAGCCGGACCTGTCTC	NP_060696.4:p.Glu520=
XM_005247036.4:c.1525_1540delinsGAGCCGGACCTGTCTC	XP_005247093.1:p.Glu509=
NM_018226.6:c.1558_1573delinsGAGCCGGACCTGTCTC MANE Select	NP_060696.4:p.Glu520=