Canonical Allele Identifier: CA1345020
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 2734069
ClinVar RCV Id: RCV003554881 RCV003989850
dbSNP Id: rs753950998
ExAC: 1:204131146 T / TGTA
gnomAD v2: 1-204131146-T-TGTA
gnomAD v3: 1-204162018-T-TGTA
gnomAD v4: 1-204162018-T-TGTA
MyVariant Identifiers: chr1:g.204131146_204131147insGTA (hg19) chr1:g.204162018_204162019insGTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204162021_204162023dup , CM000663.2:g.204162021_204162023dup GRCh38
NC_000001.10:g.204131149_204131151dup , CM000663.1:g.204131149_204131151dup GRCh37
NC_000001.9:g.202397772_202397774dup NCBI36
NG_012122.1:g.9317_9319dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.241_243dup MANE Select ENSP00000272190.8:p.Tyr81_Met82insTyr
ENST00000638118.1:c.127_129dup ENSP00000490307.1:p.Tyr43_Met44insTyr
ENST00000272190.8:c.241_243dup ENSP00000272190.8:p.Tyr81_Met82insTyr
NM_000537.3:c.241_243dup NP_000528.1:p.Tyr81_Met82insTyr
NM_000537.4:c.241_243dup MANE Select NP_000528.1:p.Tyr81_Met82insTyr
Search 100 bp 5'
Search 100 bp 3'