Canonical Allele Identifier: CA2663967588
Gene: RNPEPL1 HGNC NCBI

Linked Data

gnomAD v4: 2-240576153-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576156del , CM000664.2:g.240576156del GRCh38
NC_000002.11:g.241515573del , CM000664.1:g.241515573del GRCh37
NC_000002.10:g.241164246del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270357.10:c.1511-379del MANE Select ENSP00000270357.4:n.1511-379del
ENST00000270357.8:c.818-379del ENSP00000270357.3:n.818-379del
ENST00000437406.1:c.110-412del ENSP00000403319.1:n.110-412del
ENST00000451363.5:c.152-379del ENSP00000414661.1:n.152-379del
ENST00000464550.5:n.347-379del
ENST00000471657.1:n.314-379del
ENST00000481757.5:n.2066del
ENST00000486058.5:n.1624-379del
ENST00000493398.5:n.657-379del
NM_018226.4:c.1511-379del NP_060696.4:n.1511-379del
XM_005247036.3:c.1511-412del XP_005247093.1:n.1511-412del
NM_018226.5:c.1511-379del NP_060696.4:n.1511-379del
XM_005247036.4:c.1511-412del XP_005247093.1:n.1511-412del
NM_018226.6:c.1511-379del MANE Select NP_060696.4:n.1511-379del
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