Canonical Allele Identifier: CA2663969522

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576477-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576479_240576480del , CM000664.2:g.240576479_240576480del	GRCh38
NC_000002.11:g.241515896_241515897del , CM000664.1:g.241515896_241515897del	GRCh37
NC_000002.10:g.241164569_241164570del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-56_1511-55del MANE Select	ENSP00000270357.4:n.1511-56_1511-55del
ENST00000270357.8:c.818-56_818-55del	ENSP00000270357.3:n.818-56_818-55del
ENST00000437406.1:c.110-89_110-88del	ENSP00000403319.1:n.110-89_110-88del
ENST00000451363.5:c.152-56_152-55del	ENSP00000414661.1:n.152-56_152-55del
ENST00000464550.5:n.347-56_347-55del
ENST00000471657.1:n.314-56_314-55del
ENST00000481757.5:n.2389_2390del
ENST00000486058.5:n.1624-56_1624-55del
ENST00000493398.5:n.657-56_657-55del
NM_018226.4:c.1511-56_1511-55del	NP_060696.4:n.1511-56_1511-55del
XM_005247036.3:c.1511-89_1511-88del	XP_005247093.1:n.1511-89_1511-88del
NM_018226.5:c.1511-56_1511-55del	NP_060696.4:n.1511-56_1511-55del
XM_005247036.4:c.1511-89_1511-88del	XP_005247093.1:n.1511-89_1511-88del
NM_018226.6:c.1511-56_1511-55del MANE Select	NP_060696.4:n.1511-56_1511-55del