Canonical Allele Identifier: CA1344896
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs768486255
ExAC: 1:204128698 ATC / A
gnomAD v2: 1-204128698-ATC-A
gnomAD v3: 1-204159570-ATC-A
gnomAD v4: 1-204159570-ATC-A
MyVariant Identifiers: chr1:g.204128699_204128700del (hg19) chr1:g.204159571_204159572del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159572_204159573del , CM000663.2:g.204159572_204159573del GRCh38
NC_000001.10:g.204128700_204128701del , CM000663.1:g.204128700_204128701del GRCh37
NC_000001.9:g.202395323_202395324del NCBI36
NG_012122.1:g.11766_11767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.516_517del MANE Select ENSP00000272190.8:p.Gln172HisfsTer19
ENST00000638118.1:c.402_403del ENSP00000490307.1:p.Gln134HisfsTer19
ENST00000272190.8:c.516_517del ENSP00000272190.8:p.Gln172HisfsTer19
NM_000537.3:c.516_517del NP_000528.1:p.Gln172HisfsTer19
NM_000537.4:c.516_517del MANE Select NP_000528.1:p.Gln172HisfsTer19
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