Canonical Allele Identifier: CA540752277

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1348454202
• gnomAD v2: 2-241515999-GAGCCGGACCTGTCTC-G
• MyVariant Identifiers: chr2:g.241516000_241516014del (hg19) ; chr2:g.240576583_240576597del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576585_240576599del , CM000664.2:g.240576585_240576599del	GRCh38
NC_000002.11:g.241516002_241516016del , CM000664.1:g.241516002_241516016del	GRCh37
NC_000002.10:g.241164675_241164689del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1561_1575del MANE Select	ENSP00000270357.4:p.Pro521_Gln525del
ENST00000270357.8:c.868_882del	ENSP00000270357.3:p.Pro290_Gln294del
ENST00000437406.1:c.127_141del	ENSP00000403319.1:p.Pro43_Gln47del
ENST00000451363.5:c.202_216del	ENSP00000414661.1:p.Pro68_Gln72del
ENST00000464550.5:n.397_411del
ENST00000471657.1:n.364_378del
ENST00000481757.5:n.2495_2509del
ENST00000486058.5:n.1674_1688del
ENST00000493398.5:n.707_721del
NM_018226.4:c.1561_1575del	NP_060696.4:p.Pro521_Gln525del
XM_005247036.3:c.1528_1542del	XP_005247093.1:p.Pro510_Gln514del
NM_018226.5:c.1561_1575del	NP_060696.4:p.Pro521_Gln525del
XM_005247036.4:c.1528_1542del	XP_005247093.1:p.Pro510_Gln514del
NM_018226.6:c.1561_1575del MANE Select	NP_060696.4:p.Pro521_Gln525del