Canonical Allele Identifier: CA2663968473

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576276-AGGAGAGGCGTGGAGTGGGTGCGAGTCCCTTGGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576277_240576310del , CM000664.2:g.240576277_240576310del	GRCh38
NC_000002.11:g.241515694_241515727del , CM000664.1:g.241515694_241515727del	GRCh37
NC_000002.10:g.241164367_241164400del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-258_1511-225del MANE Select	ENSP00000270357.4:n.1511-258_1511-225del
ENST00000270357.8:c.818-258_818-225del	ENSP00000270357.3:n.818-258_818-225del
ENST00000437406.1:c.110-291_110-258del	ENSP00000403319.1:n.110-291_110-258del
ENST00000451363.5:c.152-258_152-225del	ENSP00000414661.1:n.152-258_152-225del
ENST00000464550.5:n.347-258_347-225del
ENST00000471657.1:n.314-258_314-225del
ENST00000481757.5:n.2187_2220del
ENST00000486058.5:n.1624-258_1624-225del
ENST00000493398.5:n.657-258_657-225del
NM_018226.4:c.1511-258_1511-225del	NP_060696.4:n.1511-258_1511-225del
XM_005247036.3:c.1511-291_1511-258del	XP_005247093.1:n.1511-291_1511-258del
NM_018226.5:c.1511-258_1511-225del	NP_060696.4:n.1511-258_1511-225del
XM_005247036.4:c.1511-291_1511-258del	XP_005247093.1:n.1511-291_1511-258del
NM_018226.6:c.1511-258_1511-225del MANE Select	NP_060696.4:n.1511-258_1511-225del