Canonical Allele Identifier: CA2754883499

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576439del , CM000664.2:g.240576439del	GRCh38
NC_000002.11:g.241515856del , CM000664.1:g.241515856del	GRCh37
NC_000002.10:g.241164529del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-96del MANE Select	ENSP00000270357.4:n.1511-96del
ENST00000270357.8:c.818-96del	ENSP00000270357.3:n.818-96del
ENST00000437406.1:c.110-129del	ENSP00000403319.1:n.110-129del
ENST00000451363.5:c.152-96del	ENSP00000414661.1:n.152-96del
ENST00000464550.5:n.347-96del
ENST00000471657.1:n.314-96del
ENST00000481757.5:n.2349del
ENST00000486058.5:n.1624-96del
ENST00000493398.5:n.657-96del
NM_018226.4:c.1511-96del	NP_060696.4:n.1511-96del
XM_005247036.3:c.1511-129del	XP_005247093.1:n.1511-129del
NM_018226.5:c.1511-96del	NP_060696.4:n.1511-96del
XM_005247036.4:c.1511-129del	XP_005247093.1:n.1511-129del
NM_018226.6:c.1511-96del MANE Select	NP_060696.4:n.1511-96del