Canonical Allele Identifier: CA2754883483
Gene: RNPEPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576176_240576177insC , CM000664.2:g.240576176_240576177insC GRCh38
NC_000002.11:g.241515593_241515594insC , CM000664.1:g.241515593_241515594insC GRCh37
NC_000002.10:g.241164266_241164267insC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1511-359_1511-358insC MANE Select ENSP00000270357.4:n.1511-359_1511-358insC
ENST00000270357.8:c.818-359_818-358insC ENSP00000270357.3:n.818-359_818-358insC
ENST00000437406.1:c.110-392_110-391insC ENSP00000403319.1:n.110-392_110-391insC
ENST00000451363.5:c.152-359_152-358insC ENSP00000414661.1:n.152-359_152-358insC
ENST00000464550.5:n.347-359_347-358insC
ENST00000471657.1:n.314-359_314-358insC
ENST00000481757.5:n.2086_2087insC
ENST00000486058.5:n.1624-359_1624-358insC
ENST00000493398.5:n.657-359_657-358insC
NM_018226.4:c.1511-359_1511-358insC NP_060696.4:n.1511-359_1511-358insC
XM_005247036.3:c.1511-392_1511-391insC XP_005247093.1:n.1511-392_1511-391insC
NM_018226.5:c.1511-359_1511-358insC NP_060696.4:n.1511-359_1511-358insC
XM_005247036.4:c.1511-392_1511-391insC XP_005247093.1:n.1511-392_1511-391insC
NM_018226.6:c.1511-359_1511-358insC MANE Select NP_060696.4:n.1511-359_1511-358insC