Canonical Allele Identifier: CA1044050489

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs2093038284
• gnomAD v3: 2-240576579-GCTGAGCCGGACCTGTCTCAGGGATCCAGC-G
• gnomAD v4: 2-240576579-GCTGAGCCGGACCTGTCTCAGGGATCCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576584_240576612del , CM000664.2:g.240576584_240576612del	GRCh38
NC_000002.11:g.241516001_241516029del , CM000664.1:g.241516001_241516029del	GRCh37
NC_000002.10:g.241164674_241164702del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1560_1588del MANE Select	ENSP00000270357.4:p.Glu520AspfsTer27
ENST00000270357.8:c.867_895del	ENSP00000270357.3:p.Glu289AspfsTer27
ENST00000437406.1:c.126_154del	ENSP00000403319.1:p.Glu42AspfsTer27
ENST00000451363.5:c.201_229del	ENSP00000414661.1:p.Glu67AspfsTer27
ENST00000464550.5:n.396_424del
ENST00000471657.1:n.363_391del
ENST00000481757.5:n.2494_2522del
ENST00000486058.5:n.1673_1701del
ENST00000493398.5:n.706_734del
NM_018226.4:c.1560_1588del	NP_060696.4:p.Glu520AspfsTer27
XM_005247036.3:c.1527_1555del	XP_005247093.1:p.Glu509AspfsTer27
NM_018226.5:c.1560_1588del	NP_060696.4:p.Glu520AspfsTer27
XM_005247036.4:c.1527_1555del	XP_005247093.1:p.Glu509AspfsTer27
NM_018226.6:c.1560_1588del MANE Select	NP_060696.4:p.Glu520AspfsTer27