Canonical Allele Identifier: CA2754883481
Gene: RNPEPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576167_240576168insAGC , CM000664.2:g.240576167_240576168insAGC GRCh38
NC_000002.11:g.241515584_241515585insAGC , CM000664.1:g.241515584_241515585insAGC GRCh37
NC_000002.10:g.241164257_241164258insAGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1511-368_1511-367insAGC MANE Select ENSP00000270357.4:n.1511-368_1511-367insAGC
ENST00000270357.8:c.818-368_818-367insAGC ENSP00000270357.3:n.818-368_818-367insAGC
ENST00000437406.1:c.110-401_110-400insAGC ENSP00000403319.1:n.110-401_110-400insAGC
ENST00000451363.5:c.152-368_152-367insAGC ENSP00000414661.1:n.152-368_152-367insAGC
ENST00000464550.5:n.347-368_347-367insAGC
ENST00000471657.1:n.314-368_314-367insAGC
ENST00000481757.5:n.2077_2078insAGC
ENST00000486058.5:n.1624-368_1624-367insAGC
ENST00000493398.5:n.657-368_657-367insAGC
NM_018226.4:c.1511-368_1511-367insAGC NP_060696.4:n.1511-368_1511-367insAGC
XM_005247036.3:c.1511-401_1511-400insAGC XP_005247093.1:n.1511-401_1511-400insAGC
NM_018226.5:c.1511-368_1511-367insAGC NP_060696.4:n.1511-368_1511-367insAGC
XM_005247036.4:c.1511-401_1511-400insAGC XP_005247093.1:n.1511-401_1511-400insAGC
NM_018226.6:c.1511-368_1511-367insAGC MANE Select NP_060696.4:n.1511-368_1511-367insAGC