Canonical Allele Identifier: CA540752268

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1387488885
• gnomAD v2: 2-241515842-ACAGGC-A
• gnomAD v3: 2-240576425-ACAGGC-A
• gnomAD v4: 2-240576425-ACAGGC-A
• MyVariant Identifiers: chr2:g.241515843_241515847del (hg19) ; chr2:g.240576426_240576430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576428_240576432del , CM000664.2:g.240576428_240576432del	GRCh38
NC_000002.11:g.241515845_241515849del , CM000664.1:g.241515845_241515849del	GRCh37
NC_000002.10:g.241164518_241164522del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-107_1511-103del MANE Select	ENSP00000270357.4:n.1511-107_1511-103del
ENST00000270357.8:c.818-107_818-103del	ENSP00000270357.3:n.818-107_818-103del
ENST00000437406.1:c.110-140_110-136del	ENSP00000403319.1:n.110-140_110-136del
ENST00000451363.5:c.152-107_152-103del	ENSP00000414661.1:n.152-107_152-103del
ENST00000464550.5:n.347-107_347-103del
ENST00000471657.1:n.314-107_314-103del
ENST00000481757.5:n.2338_2342del
ENST00000486058.5:n.1624-107_1624-103del
ENST00000493398.5:n.657-107_657-103del
NM_018226.4:c.1511-107_1511-103del	NP_060696.4:n.1511-107_1511-103del
XM_005247036.3:c.1511-140_1511-136del	XP_005247093.1:n.1511-140_1511-136del
NM_018226.5:c.1511-107_1511-103del	NP_060696.4:n.1511-107_1511-103del
XM_005247036.4:c.1511-140_1511-136del	XP_005247093.1:n.1511-140_1511-136del
NM_018226.6:c.1511-107_1511-103del MANE Select	NP_060696.4:n.1511-107_1511-103del