Canonical Allele Identifier: CA2663969204

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576418-C-CCCTGGAACAGGCCACCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576428_240576445dup , CM000664.2:g.240576428_240576445dup	GRCh38
NC_000002.11:g.241515845_241515862dup , CM000664.1:g.241515845_241515862dup	GRCh37
NC_000002.10:g.241164518_241164535dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-107_1511-90dup MANE Select	ENSP00000270357.4:n.1511-107_1511-90dup
ENST00000270357.8:c.818-107_818-90dup	ENSP00000270357.3:n.818-107_818-90dup
ENST00000437406.1:c.110-140_110-123dup	ENSP00000403319.1:n.110-140_110-123dup
ENST00000451363.5:c.152-107_152-90dup	ENSP00000414661.1:n.152-107_152-90dup
ENST00000464550.5:n.347-107_347-90dup
ENST00000471657.1:n.314-107_314-90dup
ENST00000481757.5:n.2338_2355dup
ENST00000486058.5:n.1624-107_1624-90dup
ENST00000493398.5:n.657-107_657-90dup
NM_018226.4:c.1511-107_1511-90dup	NP_060696.4:n.1511-107_1511-90dup
XM_005247036.3:c.1511-140_1511-123dup	XP_005247093.1:n.1511-140_1511-123dup
NM_018226.5:c.1511-107_1511-90dup	NP_060696.4:n.1511-107_1511-90dup
XM_005247036.4:c.1511-140_1511-123dup	XP_005247093.1:n.1511-140_1511-123dup
NM_018226.6:c.1511-107_1511-90dup MANE Select	NP_060696.4:n.1511-107_1511-90dup