Canonical Allele Identifier: CA528191381
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1291810356
gnomAD v2: 1-204134540-CT-C
MyVariant Identifiers: chr1:g.204134541del (hg19) chr1:g.204165413del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204165413del , CM000663.2:g.204165413del GRCh38
NC_000001.10:g.204134541del , CM000663.1:g.204134541del GRCh37
NC_000001.9:g.202401164del NCBI36
NG_012122.1:g.5925del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.98+783del MANE Select ENSP00000272190.8:n.98+783del
ENST00000638118.1:c.-16-3250del ENSP00000490307.1:n.-16-3250del
ENST00000272190.8:c.98+783del ENSP00000272190.8:n.98+783del
NM_000537.3:c.98+783del NP_000528.1:n.98+783del
NM_000537.4:c.98+783del MANE Select NP_000528.1:n.98+783del
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