Canonical Allele Identifier: CA2663969714

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576617-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576620del , CM000664.2:g.240576620del	GRCh38
NC_000002.11:g.241516037del , CM000664.1:g.241516037del	GRCh37
NC_000002.10:g.241164710del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1596del MANE Select	ENSP00000270357.4:p.Val533TrpfsTer?
ENST00000270357.8:c.903del	ENSP00000270357.3:p.Val302TrpfsTer?
ENST00000437406.1:c.162del	ENSP00000403319.1:p.Val55TrpfsTer?
ENST00000451363.5:c.237del	ENSP00000414661.1:p.Val80TrpfsTer?
ENST00000464550.5:n.432del
ENST00000471657.1:n.399del
ENST00000481757.5:n.2530del
ENST00000486058.5:n.1709del
ENST00000493398.5:n.742del
NM_018226.4:c.1596del	NP_060696.4:p.Val533TrpfsTer?
XM_005247036.3:c.1563del	XP_005247093.1:p.Val522TrpfsTer?
NM_018226.5:c.1596del	NP_060696.4:p.Val533TrpfsTer?
XM_005247036.4:c.1563del	XP_005247093.1:p.Val522TrpfsTer?
NM_018226.6:c.1596del MANE Select	NP_060696.4:p.Val533TrpfsTer?