Canonical Allele Identifier: CA1339183615

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240575919_240575920delinsTG , CM000664.2:g.240575919_240575920delinsTG	GRCh38
NC_000002.11:g.241515336_241515337delinsTG , CM000664.1:g.241515336_241515337delinsTG	GRCh37
NC_000002.10:g.241164009_241164010delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1510+309_1510+310delinsTG MANE Select	ENSP00000270357.4:n.1510+309_1510+310delinsTG
ENST00000270357.8:c.817+309_817+310delinsTG	ENSP00000270357.3:n.817+309_817+310delinsTG
ENST00000437406.1:c.109+309_109+310delinsTG	ENSP00000403319.1:n.109+309_109+310delinsTG
ENST00000451363.5:c.151+309_151+310delinsTG	ENSP00000414661.1:n.151+309_151+310delinsTG
ENST00000464550.5:n.346+309_346+310delinsTG
ENST00000471657.1:n.313+309_313+310delinsTG
ENST00000481757.5:n.1829_1830delinsTG
ENST00000486058.5:n.1623+309_1623+310delinsTG
ENST00000493398.5:n.656+309_656+310delinsTG
NM_018226.4:c.1510+309_1510+310delinsTG	NP_060696.4:n.1510+309_1510+310delinsTG
XM_005247036.3:c.1510+309_1510+310delinsTG	XP_005247093.1:n.1510+309_1510+310delinsTG
NM_018226.5:c.1510+309_1510+310delinsTG	NP_060696.4:n.1510+309_1510+310delinsTG
XM_005247036.4:c.1510+309_1510+310delinsTG	XP_005247093.1:n.1510+309_1510+310delinsTG
NM_018226.6:c.1510+309_1510+310delinsTG MANE Select	NP_060696.4:n.1510+309_1510+310delinsTG