Canonical Allele Identifier: CA645539485
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 13125
ClinVar RCV Id: RCV000014005 RCV002496354 RCV003565383
dbSNP Id: rs1571652012
gnomAD v4: 1-204166246-GAGC-G
COSMIC: COSM5845196
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204166258_204166260del , CM000663.2:g.204166258_204166260del GRCh38
NC_000001.10:g.204135386_204135388del , CM000663.1:g.204135386_204135388del GRCh37
NC_000001.9:g.202402009_202402011del NCBI36
NG_012122.1:g.5089_5091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.45_47del MANE Select ENSP00000272190.8:p.Leu16del
ENST00000638118.1:c.-16-4086_-16-4084del ENSP00000490307.1:n.-16-4086_-16-4084del
ENST00000272190.8:c.45_47del ENSP00000272190.8:p.Leu16del
NM_000537.3:c.45_47del NP_000528.1:p.Leu16del
NM_000537.4:c.45_47del MANE Select NP_000528.1:p.Leu16del
Search 100 bp 5'
Search 100 bp 3'