Canonical Allele Identifier: CA2663969484
Gene: RNPEPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576470_240576471del , CM000664.2:g.240576470_240576471del GRCh38
NC_000002.11:g.241515887_241515888del , CM000664.1:g.241515887_241515888del GRCh37
NC_000002.10:g.241164560_241164561del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1511-65_1511-64del MANE Select ENSP00000270357.4:n.1511-65_1511-64del
ENST00000270357.8:c.818-65_818-64del ENSP00000270357.3:n.818-65_818-64del
ENST00000437406.1:c.110-98_110-97del ENSP00000403319.1:n.110-98_110-97del
ENST00000451363.5:c.152-65_152-64del ENSP00000414661.1:n.152-65_152-64del
ENST00000464550.5:n.347-65_347-64del
ENST00000471657.1:n.314-65_314-64del
ENST00000481757.5:n.2380_2381del
ENST00000486058.5:n.1624-65_1624-64del
ENST00000493398.5:n.657-65_657-64del
NM_018226.4:c.1511-65_1511-64del NP_060696.4:n.1511-65_1511-64del
XM_005247036.3:c.1511-98_1511-97del XP_005247093.1:n.1511-98_1511-97del
NM_018226.5:c.1511-65_1511-64del NP_060696.4:n.1511-65_1511-64del
XM_005247036.4:c.1511-98_1511-97del XP_005247093.1:n.1511-98_1511-97del
NM_018226.6:c.1511-65_1511-64del MANE Select NP_060696.4:n.1511-65_1511-64del