Canonical Allele Identifier: CA1339183936

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs2093038084

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576528_240576539dup , CM000664.2:g.240576528_240576539dup	GRCh38
NC_000002.11:g.241515945_241515956dup , CM000664.1:g.241515945_241515956dup	GRCh37
NC_000002.10:g.241164618_241164629dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-7_1515dup
ENST00000270357.8:c.818-7_822dup
ENST00000437406.1:c.110-40_110-29dup	ENSP00000403319.1:n.110-40_110-29dup
ENST00000451363.5:c.152-7_156dup
ENST00000464550.5:n.347-7_351dup
ENST00000471657.1:n.314-7_318dup
ENST00000481757.5:n.2438_2449dup
ENST00000486058.5:n.1624-7_1628dup
ENST00000493398.5:n.657-7_661dup
NM_018226.4:c.1511-7_1515dup
XM_005247036.3:c.1511-40_1511-29dup	XP_005247093.1:n.1511-40_1511-29dup
NM_018226.5:c.1511-7_1515dup
XM_005247036.4:c.1511-40_1511-29dup	XP_005247093.1:n.1511-40_1511-29dup
NM_018226.6:c.1511-7_1515dup