Canonical Allele Identifier: CA766921141

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1359396422
• gnomAD v3: 2-240575972-CCTGAGGGT-C
• gnomAD v4: 2-240575972-CCTGAGGGT-C
• MyVariant Identifiers: chr2:g.241515390_241515397del (hg19) ; chr2:g.240575973_240575980del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240575980_240575987del , CM000664.2:g.240575980_240575987del	GRCh38
NC_000002.11:g.241515397_241515404del , CM000664.1:g.241515397_241515404del	GRCh37
NC_000002.10:g.241164070_241164077del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000270357.10:c.1510+370_1510+377del MANE Select	ENSP00000270357.4:n.1510+370_1510+377del
ENST00000270357.8:c.817+370_817+377del	ENSP00000270357.3:n.817+370_817+377del
ENST00000437406.1:c.109+370_109+377del	ENSP00000403319.1:n.109+370_109+377del
ENST00000451363.5:c.151+370_151+377del	ENSP00000414661.1:n.151+370_151+377del
ENST00000464550.5:n.346+370_346+377del
ENST00000471657.1:n.313+370_313+377del
ENST00000481757.5:n.1890_1897del
ENST00000486058.5:n.1623+370_1623+377del
ENST00000493398.5:n.656+370_656+377del
NM_018226.4:c.1510+370_1510+377del	NP_060696.4:n.1510+370_1510+377del
XM_005247036.3:c.1510+370_1510+377del	XP_005247093.1:n.1510+370_1510+377del
NM_018226.5:c.1510+370_1510+377del	NP_060696.4:n.1510+370_1510+377del
XM_005247036.4:c.1510+370_1510+377del	XP_005247093.1:n.1510+370_1510+377del
NM_018226.6:c.1510+370_1510+377del MANE Select	NP_060696.4:n.1510+370_1510+377del