Canonical Allele Identifier: CA2663966648

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240575943-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240575944_240575945del , CM000664.2:g.240575944_240575945del	GRCh38
NC_000002.11:g.241515361_241515362del , CM000664.1:g.241515361_241515362del	GRCh37
NC_000002.10:g.241164034_241164035del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1510+334_1510+335del MANE Select	ENSP00000270357.4:n.1510+334_1510+335del
ENST00000270357.8:c.817+334_817+335del	ENSP00000270357.3:n.817+334_817+335del
ENST00000437406.1:c.109+334_109+335del	ENSP00000403319.1:n.109+334_109+335del
ENST00000451363.5:c.151+334_151+335del	ENSP00000414661.1:n.151+334_151+335del
ENST00000464550.5:n.346+334_346+335del
ENST00000471657.1:n.313+334_313+335del
ENST00000481757.5:n.1854_1855del
ENST00000486058.5:n.1623+334_1623+335del
ENST00000493398.5:n.656+334_656+335del
NM_018226.4:c.1510+334_1510+335del	NP_060696.4:n.1510+334_1510+335del
XM_005247036.3:c.1510+334_1510+335del	XP_005247093.1:n.1510+334_1510+335del
NM_018226.5:c.1510+334_1510+335del	NP_060696.4:n.1510+334_1510+335del
XM_005247036.4:c.1510+334_1510+335del	XP_005247093.1:n.1510+334_1510+335del
NM_018226.6:c.1510+334_1510+335del MANE Select	NP_060696.4:n.1510+334_1510+335del