Canonical Allele Identifier: CA540535877

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1464573477
• gnomAD v2: 2-241515772-CTT-C
• gnomAD v3: 2-240576355-CTT-C
• gnomAD v4: 2-240576355-CTT-C
• MyVariant Identifiers: chr2:g.241515773_241515774del (hg19) ; chr2:g.240576356_240576357del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576356_240576357del , CM000664.2:g.240576356_240576357del	GRCh38
NC_000002.11:g.241515773_241515774del , CM000664.1:g.241515773_241515774del	GRCh37
NC_000002.10:g.241164446_241164447del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-179_1511-178del MANE Select	ENSP00000270357.4:n.1511-179_1511-178del
ENST00000270357.8:c.818-179_818-178del	ENSP00000270357.3:n.818-179_818-178del
ENST00000437406.1:c.110-212_110-211del	ENSP00000403319.1:n.110-212_110-211del
ENST00000451363.5:c.152-179_152-178del	ENSP00000414661.1:n.152-179_152-178del
ENST00000464550.5:n.347-179_347-178del
ENST00000471657.1:n.314-179_314-178del
ENST00000481757.5:n.2266_2267del
ENST00000486058.5:n.1624-179_1624-178del
ENST00000493398.5:n.657-179_657-178del
NM_018226.4:c.1511-179_1511-178del	NP_060696.4:n.1511-179_1511-178del
XM_005247036.3:c.1511-212_1511-211del	XP_005247093.1:n.1511-212_1511-211del
NM_018226.5:c.1511-179_1511-178del	NP_060696.4:n.1511-179_1511-178del
XM_005247036.4:c.1511-212_1511-211del	XP_005247093.1:n.1511-212_1511-211del
NM_018226.6:c.1511-179_1511-178del MANE Select	NP_060696.4:n.1511-179_1511-178del