Canonical Allele Identifier: CA1339183904

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576442_240576444delinsAAC , CM000664.2:g.240576442_240576444delinsAAC	GRCh38
NC_000002.11:g.241515859_241515861delinsAAC , CM000664.1:g.241515859_241515861delinsAAC	GRCh37
NC_000002.10:g.241164532_241164534delinsAAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-93_1511-91delinsAAC MANE Select	ENSP00000270357.4:n.1511-93_1511-91delinsAAC
ENST00000270357.8:c.818-93_818-91delinsAAC	ENSP00000270357.3:n.818-93_818-91delinsAAC
ENST00000437406.1:c.110-126_110-124delinsAAC	ENSP00000403319.1:n.110-126_110-124delinsAAC
ENST00000451363.5:c.152-93_152-91delinsAAC	ENSP00000414661.1:n.152-93_152-91delinsAAC
ENST00000464550.5:n.347-93_347-91delinsAAC
ENST00000471657.1:n.314-93_314-91delinsAAC
ENST00000481757.5:n.2352_2354delinsAAC
ENST00000486058.5:n.1624-93_1624-91delinsAAC
ENST00000493398.5:n.657-93_657-91delinsAAC
NM_018226.4:c.1511-93_1511-91delinsAAC	NP_060696.4:n.1511-93_1511-91delinsAAC
XM_005247036.3:c.1511-126_1511-124delinsAAC	XP_005247093.1:n.1511-126_1511-124delinsAAC
NM_018226.5:c.1511-93_1511-91delinsAAC	NP_060696.4:n.1511-93_1511-91delinsAAC
XM_005247036.4:c.1511-126_1511-124delinsAAC	XP_005247093.1:n.1511-126_1511-124delinsAAC
NM_018226.6:c.1511-93_1511-91delinsAAC MANE Select	NP_060696.4:n.1511-93_1511-91delinsAAC