Canonical Allele Identifier: CA2754883479
Gene: RNPEPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576160_240576161insT , CM000664.2:g.240576160_240576161insT GRCh38
NC_000002.11:g.241515577_241515578insT , CM000664.1:g.241515577_241515578insT GRCh37
NC_000002.10:g.241164250_241164251insT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1511-375_1511-374insT MANE Select ENSP00000270357.4:n.1511-375_1511-374insT
ENST00000270357.8:c.818-375_818-374insT ENSP00000270357.3:n.818-375_818-374insT
ENST00000437406.1:c.110-408_110-407insT ENSP00000403319.1:n.110-408_110-407insT
ENST00000451363.5:c.152-375_152-374insT ENSP00000414661.1:n.152-375_152-374insT
ENST00000464550.5:n.347-375_347-374insT
ENST00000471657.1:n.314-375_314-374insT
ENST00000481757.5:n.2070_2071insT
ENST00000486058.5:n.1624-375_1624-374insT
ENST00000493398.5:n.657-375_657-374insT
NM_018226.4:c.1511-375_1511-374insT NP_060696.4:n.1511-375_1511-374insT
XM_005247036.3:c.1511-408_1511-407insT XP_005247093.1:n.1511-408_1511-407insT
NM_018226.5:c.1511-375_1511-374insT NP_060696.4:n.1511-375_1511-374insT
XM_005247036.4:c.1511-408_1511-407insT XP_005247093.1:n.1511-408_1511-407insT
NM_018226.6:c.1511-375_1511-374insT MANE Select NP_060696.4:n.1511-375_1511-374insT