Canonical Allele Identifier: CA2663969455
Gene: RNPEPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576460_240576483del , CM000664.2:g.240576460_240576483del GRCh38
NC_000002.11:g.241515877_241515900del , CM000664.1:g.241515877_241515900del GRCh37
NC_000002.10:g.241164550_241164573del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1511-75_1511-52del MANE Select ENSP00000270357.4:n.1511-75_1511-52del
ENST00000270357.8:c.818-75_818-52del ENSP00000270357.3:n.818-75_818-52del
ENST00000437406.1:c.110-108_110-85del ENSP00000403319.1:n.110-108_110-85del
ENST00000451363.5:c.152-75_152-52del ENSP00000414661.1:n.152-75_152-52del
ENST00000464550.5:n.347-75_347-52del
ENST00000471657.1:n.314-75_314-52del
ENST00000481757.5:n.2370_2393del
ENST00000486058.5:n.1624-75_1624-52del
ENST00000493398.5:n.657-75_657-52del
NM_018226.4:c.1511-75_1511-52del NP_060696.4:n.1511-75_1511-52del
XM_005247036.3:c.1511-108_1511-85del XP_005247093.1:n.1511-108_1511-85del
NM_018226.5:c.1511-75_1511-52del NP_060696.4:n.1511-75_1511-52del
XM_005247036.4:c.1511-108_1511-85del XP_005247093.1:n.1511-108_1511-85del
NM_018226.6:c.1511-75_1511-52del MANE Select NP_060696.4:n.1511-75_1511-52del