Canonical Allele Identifier: CA1339183893

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576421_240576422delinsTG , CM000664.2:g.240576421_240576422delinsTG	GRCh38
NC_000002.11:g.241515838_241515839delinsTG , CM000664.1:g.241515838_241515839delinsTG	GRCh37
NC_000002.10:g.241164511_241164512delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-114_1511-113delinsTG MANE Select	ENSP00000270357.4:n.1511-114_1511-113delinsTG
ENST00000270357.8:c.818-114_818-113delinsTG	ENSP00000270357.3:n.818-114_818-113delinsTG
ENST00000437406.1:c.110-147_110-146delinsTG	ENSP00000403319.1:n.110-147_110-146delinsTG
ENST00000451363.5:c.152-114_152-113delinsTG	ENSP00000414661.1:n.152-114_152-113delinsTG
ENST00000464550.5:n.347-114_347-113delinsTG
ENST00000471657.1:n.314-114_314-113delinsTG
ENST00000481757.5:n.2331_2332delinsTG
ENST00000486058.5:n.1624-114_1624-113delinsTG
ENST00000493398.5:n.657-114_657-113delinsTG
NM_018226.4:c.1511-114_1511-113delinsTG	NP_060696.4:n.1511-114_1511-113delinsTG
XM_005247036.3:c.1511-147_1511-146delinsTG	XP_005247093.1:n.1511-147_1511-146delinsTG
NM_018226.5:c.1511-114_1511-113delinsTG	NP_060696.4:n.1511-114_1511-113delinsTG
XM_005247036.4:c.1511-147_1511-146delinsTG	XP_005247093.1:n.1511-147_1511-146delinsTG
NM_018226.6:c.1511-114_1511-113delinsTG MANE Select	NP_060696.4:n.1511-114_1511-113delinsTG