Canonical Allele Identifier: CA2663968570

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576313-CAACCCAAGTCTCTGCTTCCCTGTACCCCTTCACAGAAGCCCCTTCAGTGGCTTCAAGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576314_240576372del , CM000664.2:g.240576314_240576372del	GRCh38
NC_000002.11:g.241515731_241515789del , CM000664.1:g.241515731_241515789del	GRCh37
NC_000002.10:g.241164404_241164462del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-221_1511-163del MANE Select	ENSP00000270357.4:n.1511-221_1511-163del
ENST00000270357.8:c.818-221_818-163del	ENSP00000270357.3:n.818-221_818-163del
ENST00000437406.1:c.110-254_110-196del	ENSP00000403319.1:n.110-254_110-196del
ENST00000451363.5:c.152-221_152-163del	ENSP00000414661.1:n.152-221_152-163del
ENST00000464550.5:n.347-221_347-163del
ENST00000471657.1:n.314-221_314-163del
ENST00000481757.5:n.2224_2282del
ENST00000486058.5:n.1624-221_1624-163del
ENST00000493398.5:n.657-221_657-163del
NM_018226.4:c.1511-221_1511-163del	NP_060696.4:n.1511-221_1511-163del
XM_005247036.3:c.1511-254_1511-196del	XP_005247093.1:n.1511-254_1511-196del
NM_018226.5:c.1511-221_1511-163del	NP_060696.4:n.1511-221_1511-163del
XM_005247036.4:c.1511-254_1511-196del	XP_005247093.1:n.1511-254_1511-196del
NM_018226.6:c.1511-221_1511-163del MANE Select	NP_060696.4:n.1511-221_1511-163del