Canonical Allele Identifier: CA1344897
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs776515654
ExAC: 1:204128700 CTG / C
gnomAD v2: 1-204128700-CTG-C
gnomAD v4: 1-204159572-CTG-C
MyVariant Identifiers: chr1:g.204128701_204128702del (hg19) chr1:g.204159573_204159574del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159576_204159577del , CM000663.2:g.204159576_204159577del GRCh38
NC_000001.10:g.204128704_204128705del , CM000663.1:g.204128704_204128705del GRCh37
NC_000001.9:g.202395327_202395328del NCBI36
NG_012122.1:g.11764_11765del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.514_515del MANE Select ENSP00000272190.8:p.Gln172AspfsTer19
ENST00000638118.1:c.400_401del ENSP00000490307.1:p.Gln134AspfsTer19
ENST00000272190.8:c.514_515del ENSP00000272190.8:p.Gln172AspfsTer19
NM_000537.3:c.514_515del NP_000528.1:p.Gln172AspfsTer19
NM_000537.4:c.514_515del MANE Select NP_000528.1:p.Gln172AspfsTer19
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