Canonical Allele Identifier: CA1339183780

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576220_240576221delinsAG , CM000664.2:g.240576220_240576221delinsAG	GRCh38
NC_000002.11:g.241515637_241515638delinsAG , CM000664.1:g.241515637_241515638delinsAG	GRCh37
NC_000002.10:g.241164310_241164311delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000270357.10:c.1511-315_1511-314delinsAG MANE Select	ENSP00000270357.4:n.1511-315_1511-314deli...
ENST00000270357.8:c.818-315_818-314delinsAG	ENSP00000270357.3:n.818-315_818-314delins...
ENST00000437406.1:c.110-348_110-347delinsAG	ENSP00000403319.1:n.110-348_110-347delins...
ENST00000451363.5:c.152-315_152-314delinsAG	ENSP00000414661.1:n.152-315_152-314delins...
ENST00000464550.5:n.347-315_347-314delinsAG
ENST00000471657.1:n.314-315_314-314delinsAG
ENST00000481757.5:n.2130_2131delinsAG
ENST00000486058.5:n.1624-315_1624-314delinsAG
ENST00000493398.5:n.657-315_657-314delinsAG
NM_018226.4:c.1511-315_1511-314delinsAG	NP_060696.4:n.1511-315_1511-314delinsAG
XM_005247036.3:c.1511-348_1511-347delinsAG	XP_005247093.1:n.1511-348_1511-347delinsA...
NM_018226.5:c.1511-315_1511-314delinsAG	NP_060696.4:n.1511-315_1511-314delinsAG
XM_005247036.4:c.1511-348_1511-347delinsAG	XP_005247093.1:n.1511-348_1511-347delinsA...
NM_018226.6:c.1511-315_1511-314delinsAG MANE Select	NP_060696.4:n.1511-315_1511-314delinsAG