Canonical Allele Identifier: CA2663967527
Gene: RNPEPL1 HGNC NCBI

Linked Data

gnomAD v4: 2-240576142-TGG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576144_240576145del , CM000664.2:g.240576144_240576145del GRCh38
NC_000002.11:g.241515561_241515562del , CM000664.1:g.241515561_241515562del GRCh37
NC_000002.10:g.241164234_241164235del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270357.10:c.1511-391_1511-390del MANE Select ENSP00000270357.4:n.1511-391_1511-390del
ENST00000270357.8:c.818-391_818-390del ENSP00000270357.3:n.818-391_818-390del
ENST00000437406.1:c.110-424_110-423del ENSP00000403319.1:n.110-424_110-423del
ENST00000451363.5:c.152-391_152-390del ENSP00000414661.1:n.152-391_152-390del
ENST00000464550.5:n.347-391_347-390del
ENST00000471657.1:n.314-391_314-390del
ENST00000481757.5:n.2054_2055del
ENST00000486058.5:n.1624-391_1624-390del
ENST00000493398.5:n.657-391_657-390del
NM_018226.4:c.1511-391_1511-390del NP_060696.4:n.1511-391_1511-390del
XM_005247036.3:c.1511-424_1511-423del XP_005247093.1:n.1511-424_1511-423del
NM_018226.5:c.1511-391_1511-390del NP_060696.4:n.1511-391_1511-390del
XM_005247036.4:c.1511-424_1511-423del XP_005247093.1:n.1511-424_1511-423del
NM_018226.6:c.1511-391_1511-390del MANE Select NP_060696.4:n.1511-391_1511-390del
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