Canonical Allele Identifier: CA1339183595

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240575885_240575887delinsCCT , CM000664.2:g.240575885_240575887delinsCCT	GRCh38
NC_000002.11:g.241515302_241515304delinsCCT , CM000664.1:g.241515302_241515304delinsCCT	GRCh37
NC_000002.10:g.241163975_241163977delinsCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1510+275_1510+277delinsCCT MANE Select	ENSP00000270357.4:n.1510+275_1510+277delinsCCT
ENST00000270357.8:c.817+275_817+277delinsCCT	ENSP00000270357.3:n.817+275_817+277delinsCCT
ENST00000437406.1:c.109+275_109+277delinsCCT	ENSP00000403319.1:n.109+275_109+277delinsCCT
ENST00000451363.5:c.151+275_151+277delinsCCT	ENSP00000414661.1:n.151+275_151+277delinsCCT
ENST00000464550.5:n.346+275_346+277delinsCCT
ENST00000471657.1:n.313+275_313+277delinsCCT
ENST00000481757.5:n.1795_1797delinsCCT
ENST00000486058.5:n.1623+275_1623+277delinsCCT
ENST00000493398.5:n.656+275_656+277delinsCCT
NM_018226.4:c.1510+275_1510+277delinsCCT	NP_060696.4:n.1510+275_1510+277delinsCCT
XM_005247036.3:c.1510+275_1510+277delinsCCT	XP_005247093.1:n.1510+275_1510+277delinsCCT
NM_018226.5:c.1510+275_1510+277delinsCCT	NP_060696.4:n.1510+275_1510+277delinsCCT
XM_005247036.4:c.1510+275_1510+277delinsCCT	XP_005247093.1:n.1510+275_1510+277delinsCCT
NM_018226.6:c.1510+275_1510+277delinsCCT MANE Select	NP_060696.4:n.1510+275_1510+277delinsCCT