Canonical Allele Identifier: CA1339183962

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576579_240576608delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC , CM000664.2:g.240576579_240576608delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC	GRCh38
NC_000002.11:g.241515996_241516025delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC , CM000664.1:g.241515996_241516025delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC	GRCh37
NC_000002.10:g.241164669_241164698delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1555_1584delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC MANE Select	ENSP00000270357.4:p.Ala519=
ENST00000270357.8:c.862_891delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC	ENSP00000270357.3:p.Ala288=
ENST00000437406.1:c.121_150delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC	ENSP00000403319.1:p.Ala41=
ENST00000451363.5:c.196_225delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC	ENSP00000414661.1:p.Ala66=
ENST00000464550.5:n.391_420delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC
ENST00000471657.1:n.358_387delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC
ENST00000481757.5:n.2489_2518delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC
ENST00000486058.5:n.1668_1697delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC
ENST00000493398.5:n.701_730delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC
NM_018226.4:c.1555_1584delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC	NP_060696.4:p.Ala519=
XM_005247036.3:c.1522_1551delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC	XP_005247093.1:p.Ala508=
NM_018226.5:c.1555_1584delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC	NP_060696.4:p.Ala519=
XM_005247036.4:c.1522_1551delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC	XP_005247093.1:p.Ala508=
NM_018226.6:c.1555_1584delinsGCTGAGCCGGACCTGTCTCAGGGATCCAGC MANE Select	NP_060696.4:p.Ala519=