Canonical Allele Identifier: CA2663969708

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576597-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576598_240576599del , CM000664.2:g.240576598_240576599del	GRCh38
NC_000002.11:g.241516015_241516016del , CM000664.1:g.241516015_241516016del	GRCh37
NC_000002.10:g.241164688_241164689del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1574_1575del MANE Select	ENSP00000270357.4:p.Gln525ArgfsTer?
ENST00000270357.8:c.881_882del	ENSP00000270357.3:p.Gln294ArgfsTer?
ENST00000437406.1:c.140_141del	ENSP00000403319.1:p.Gln47ArgfsTer?
ENST00000451363.5:c.215_216del	ENSP00000414661.1:p.Gln72ArgfsTer?
ENST00000464550.5:n.410_411del
ENST00000471657.1:n.377_378del
ENST00000481757.5:n.2508_2509del
ENST00000486058.5:n.1687_1688del
ENST00000493398.5:n.720_721del
NM_018226.4:c.1574_1575del	NP_060696.4:p.Gln525ArgfsTer?
XM_005247036.3:c.1541_1542del	XP_005247093.1:p.Gln514ArgfsTer?
NM_018226.5:c.1574_1575del	NP_060696.4:p.Gln525ArgfsTer?
XM_005247036.4:c.1541_1542del	XP_005247093.1:p.Gln514ArgfsTer?
NM_018226.6:c.1574_1575del MANE Select	NP_060696.4:p.Gln525ArgfsTer?