Canonical Allele Identifier: CA2663968591

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576321-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576325_240576326del , CM000664.2:g.240576325_240576326del	GRCh38
NC_000002.11:g.241515742_241515743del , CM000664.1:g.241515742_241515743del	GRCh37
NC_000002.10:g.241164415_241164416del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-210_1511-209del MANE Select	ENSP00000270357.4:n.1511-210_1511-209del
ENST00000270357.8:c.818-210_818-209del	ENSP00000270357.3:n.818-210_818-209del
ENST00000437406.1:c.110-243_110-242del	ENSP00000403319.1:n.110-243_110-242del
ENST00000451363.5:c.152-210_152-209del	ENSP00000414661.1:n.152-210_152-209del
ENST00000464550.5:n.347-210_347-209del
ENST00000471657.1:n.314-210_314-209del
ENST00000481757.5:n.2235_2236del
ENST00000486058.5:n.1624-210_1624-209del
ENST00000493398.5:n.657-210_657-209del
NM_018226.4:c.1511-210_1511-209del	NP_060696.4:n.1511-210_1511-209del
XM_005247036.3:c.1511-243_1511-242del	XP_005247093.1:n.1511-243_1511-242del
NM_018226.5:c.1511-210_1511-209del	NP_060696.4:n.1511-210_1511-209del
XM_005247036.4:c.1511-243_1511-242del	XP_005247093.1:n.1511-243_1511-242del
NM_018226.6:c.1511-210_1511-209del MANE Select	NP_060696.4:n.1511-210_1511-209del