Canonical Allele Identifier: CA1339183786

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs2093037329

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576228_240576230del , CM000664.2:g.240576228_240576230del	GRCh38
NC_000002.11:g.241515645_241515647del , CM000664.1:g.241515645_241515647del	GRCh37
NC_000002.10:g.241164318_241164320del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-307_1511-305del MANE Select	ENSP00000270357.4:n.1511-307_1511-305del
ENST00000270357.8:c.818-307_818-305del	ENSP00000270357.3:n.818-307_818-305del
ENST00000437406.1:c.110-340_110-338del	ENSP00000403319.1:n.110-340_110-338del
ENST00000451363.5:c.152-307_152-305del	ENSP00000414661.1:n.152-307_152-305del
ENST00000464550.5:n.347-307_347-305del
ENST00000471657.1:n.314-307_314-305del
ENST00000481757.5:n.2138_2140del
ENST00000486058.5:n.1624-307_1624-305del
ENST00000493398.5:n.657-307_657-305del
NM_018226.4:c.1511-307_1511-305del	NP_060696.4:n.1511-307_1511-305del
XM_005247036.3:c.1511-340_1511-338del	XP_005247093.1:n.1511-340_1511-338del
NM_018226.5:c.1511-307_1511-305del	NP_060696.4:n.1511-307_1511-305del
XM_005247036.4:c.1511-340_1511-338del	XP_005247093.1:n.1511-340_1511-338del
NM_018226.6:c.1511-307_1511-305del MANE Select	NP_060696.4:n.1511-307_1511-305del