Canonical Allele Identifier: CA2754883477

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576154_240576157del , CM000664.2:g.240576154_240576157del	GRCh38
NC_000002.11:g.241515571_241515574del , CM000664.1:g.241515571_241515574del	GRCh37
NC_000002.10:g.241164244_241164247del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000270357.10:c.1511-381_1511-378del MANE Select	ENSP00000270357.4:n.1511-381_1511-378del
ENST00000270357.8:c.818-381_818-378del	ENSP00000270357.3:n.818-381_818-378del
ENST00000437406.1:c.110-414_110-411del	ENSP00000403319.1:n.110-414_110-411del
ENST00000451363.5:c.152-381_152-378del	ENSP00000414661.1:n.152-381_152-378del
ENST00000464550.5:n.347-381_347-378del
ENST00000471657.1:n.314-381_314-378del
ENST00000481757.5:n.2064_2067del
ENST00000486058.5:n.1624-381_1624-378del
ENST00000493398.5:n.657-381_657-378del
NM_018226.4:c.1511-381_1511-378del	NP_060696.4:n.1511-381_1511-378del
XM_005247036.3:c.1511-414_1511-411del	XP_005247093.1:n.1511-414_1511-411del
NM_018226.5:c.1511-381_1511-378del	NP_060696.4:n.1511-381_1511-378del
XM_005247036.4:c.1511-414_1511-411del	XP_005247093.1:n.1511-414_1511-411del
NM_018226.6:c.1511-381_1511-378del MANE Select	NP_060696.4:n.1511-381_1511-378del