Canonical Allele Identifier: CA2663969132

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576404-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576405del , CM000664.2:g.240576405del	GRCh38
NC_000002.11:g.241515822del , CM000664.1:g.241515822del	GRCh37
NC_000002.10:g.241164495del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-130del MANE Select	ENSP00000270357.4:n.1511-130del
ENST00000270357.8:c.818-130del	ENSP00000270357.3:n.818-130del
ENST00000437406.1:c.110-163del	ENSP00000403319.1:n.110-163del
ENST00000451363.5:c.152-130del	ENSP00000414661.1:n.152-130del
ENST00000464550.5:n.347-130del
ENST00000471657.1:n.314-130del
ENST00000481757.5:n.2315del
ENST00000486058.5:n.1624-130del
ENST00000493398.5:n.657-130del
NM_018226.4:c.1511-130del	NP_060696.4:n.1511-130del
XM_005247036.3:c.1511-163del	XP_005247093.1:n.1511-163del
NM_018226.5:c.1511-130del	NP_060696.4:n.1511-130del
XM_005247036.4:c.1511-163del	XP_005247093.1:n.1511-163del
NM_018226.6:c.1511-130del MANE Select	NP_060696.4:n.1511-130del