Canonical Allele Identifier: CA1339183905

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs2093037879

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576447_240576448del , CM000664.2:g.240576447_240576448del	GRCh38
NC_000002.11:g.241515864_241515865del , CM000664.1:g.241515864_241515865del	GRCh37
NC_000002.10:g.241164537_241164538del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-88_1511-87del MANE Select	ENSP00000270357.4:n.1511-88_1511-87del
ENST00000270357.8:c.818-88_818-87del	ENSP00000270357.3:n.818-88_818-87del
ENST00000437406.1:c.110-121_110-120del	ENSP00000403319.1:n.110-121_110-120del
ENST00000451363.5:c.152-88_152-87del	ENSP00000414661.1:n.152-88_152-87del
ENST00000464550.5:n.347-88_347-87del
ENST00000471657.1:n.314-88_314-87del
ENST00000481757.5:n.2357_2358del
ENST00000486058.5:n.1624-88_1624-87del
ENST00000493398.5:n.657-88_657-87del
NM_018226.4:c.1511-88_1511-87del	NP_060696.4:n.1511-88_1511-87del
XM_005247036.3:c.1511-121_1511-120del	XP_005247093.1:n.1511-121_1511-120del
NM_018226.5:c.1511-88_1511-87del	NP_060696.4:n.1511-88_1511-87del
XM_005247036.4:c.1511-121_1511-120del	XP_005247093.1:n.1511-121_1511-120del
NM_018226.6:c.1511-88_1511-87del MANE Select	NP_060696.4:n.1511-88_1511-87del