Canonical Allele Identifier: CA1345009

Gene: REN

Linked Data

• dbSNP Id: rs768794022
• ExAC: 1:204131108 G / GA
• gnomAD v2: 1-204131108-G-GA
• gnomAD v3: 1-204161980-G-GA
• gnomAD v4: 1-204161980-G-GA
• MyVariant Identifiers: chr1:g.204131108_204131109insA (hg19) ; chr1:g.204161980_204161981insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204161980_204161981insA , CM000663.2:g.204161980_204161981insA	GRCh38
NC_000001.10:g.204131108_204131109insA , CM000663.1:g.204131108_204131109insA	GRCh37
NC_000001.9:g.202397731_202397732insA	NCBI36
NG_012122.1:g.9357_9358insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.249+32_249+33insT MANE Select	ENSP00000272190.8:n.249+32_249+33insT
ENST00000638118.1:c.135+32_135+33insT	ENSP00000490307.1:n.135+32_135+33insT
ENST00000272190.8:c.249+32_249+33insT	ENSP00000272190.8:n.249+32_249+33insT
NM_000537.3:c.249+32_249+33insT	NP_000528.1:n.249+32_249+33insT
NM_000537.4:c.249+32_249+33insT MANE Select	NP_000528.1:n.249+32_249+33insT